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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
ABL1 A287V missense unknown ABL1 A287V lies within the protein kinase domain of the Abl1 protein (UniProt.org). A287V has been identified in the scientific literature (PMID: 26603839, PMID: 28990873), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 A337T missense gain of function ABL1 A337T lies within the protein kinase domain of the Abl1 protein (UniProt.org). A337T confers a gain of function to the Abl1 protein as demonstrated by increased phosphorylation of STAT5 and ABL1 and elevated total phosphotyrosine levels in cultured cells (PMID: 28288113).
ABL1 A337V missense gain of function ABL1 A337V lies within the protein kinase domain of the Abl1 protein (UniProt.org). A337V has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 25849130, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). Y
ABL1 A380T missense unknown ABL1 A380T lies within the protein kinase domain of the Abl1 protein (UniProt.org). A380T has been identified in the scientific literature (PMID: 29434953), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jul 2022).
ABL1 A397P missense unknown ABL1 A397P lies within the protein kinase domain of the Abl1 protein (UniProt.org). A397P has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 C330G missense unknown ABL1 C330G lies within the protein kinase domain of the Abl1 protein (UniProt.org). C330G has been identified in the scientific literature (PMID: 19373669), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 C475W missense unknown ABL1 C475W lies within the protein kinase domain of the Abl1 protein (UniProt.org). C475W has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 D276G missense gain of function - predicted ABL1 D276G lies within the protein kinase domain of the Abl1 protein (UniProt.org). D276G has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL and results in increased kinase activity (PMID: 15510211), and therefore, is predicted to lead to a gain of Abl1 protein function. Y
ABL1 E1085K missense unknown ABL1 E1085K lies within the F-actin-binding region of the Abl1 protein (UniProt.org). E1085K has not been characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E255K missense unknown ABL1 E255K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E255K demonstrates catalytic efficiency (kcat/km) similar to wild-type Abl1 in an in vitro assay (PMID: 30684523), results in increased autophosphorylation and Stat5 phosphorylation in the context of BCR-ABL1, and has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 15194504), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 E255V missense unknown ABL1 E255V lies within the protein kinase domain of the Abl1 protein (UniProt.org). E255V results in decreased enzymatic efficiency (kcat/Km) in an in vitro assay (PMID: 30684523), and has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 15710326), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 E275D missense unknown ABL1 E275D lies within the protein kinase domain of the Abl1 protein (UniProt.org). E275D has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E279K missense unknown ABL1 E279K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279K has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 16754879), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E279V missense unknown ABL1 E279V lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279V has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E279W missense unknown ABL1 E279W lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279W has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E281K missense unknown ABL1 E281K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E281K has been identified in the scientific literature (PMID: 21193419, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jul 2022).
ABL1 E282D missense unknown ABL1 E282D lies within the protein kinase domain of the Abl1 protein (UniProt.org). E282D has been identified in the scientific literature (PMID: 26603839, PMID: 12654249), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E292L missense unknown ABL1 E292L lies within the protein kinase domain of the Abl1 protein (UniProt.org). E292L has been identified in the scientific literature (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022).
ABL1 E308* nonsense loss of function - predicted ABL1 E308* results in a premature truncation of the Abl1 protein at amino acid 308 of 1130 (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), E308* is predicted to result in a loss of Abl1 protein function.
ABL1 E355A missense unknown ABL1 E355A lies within the protein kinsase domain of the Abl1 protein (UniProt.org). E355A has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E355G missense unknown ABL1 E355G lies within the protein kinase domain of the Abl1 protein (UniProt.org). E355G has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28278078), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E450G missense unknown ABL1 E450G lies within the protein kinase domain of the Abl1 protein (UniProt.org). E450G has been identified in the scientific literature (PMID: 25132497, PMID: 35399694), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E459K missense unknown ABL1 E459K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E459K has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 19201023, PMID: 28657534), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E507G missense unknown ABL1 E507G does not lie within any known functional domains of the Abl1 protein (UniProt.org). E507G has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 F311I missense unknown ABL1 F311I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F311I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 25132497, PMID: 26582647), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F311L missense unknown ABL1 F311L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F311L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F317C missense unknown ABL1 F317C lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317C has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 24382642, PMID: 15459011), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F317I missense unknown ABL1 F317I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 and another secondary drug resistance mutation (PMID: 25132497), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F317L missense unknown ABL1 F317L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 30787317), and demonstrates reduced Abl1 kinase activity and transformation activity in the context of BCR-ABL1 compared to wild-type BCR-ABL1 (PMID: 17164333), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 F317R missense unknown ABL1 F317R lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317R has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 F317V missense unknown ABL1 F317V lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317V has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 23044928, PMID: 15705718), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F359C missense unknown ABL1 F359C lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359C has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 19798095, PMID: 26773037), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F359I missense unknown ABL1 F359I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F359V missense unknown ABL1 F359V lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359V has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040, PMID: 30711891), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F486S missense unknown ABL1 F486S lies within the protein kinase domain of the Abl1 protein (UniProt.org). F486S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022).
ABL1 G250E missense unknown ABL1 G250E lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250E has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL (PMID: 21562040), and results in increased catalytic efficiency (kcat/km) in an in vitro assay (PMID: 30684523), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 G250H missense unknown ABL1 G250H lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250H has been identified in the scientific literature (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 G250R missense unknown ABL1 G250R lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250R has been identified in the scientific literature (PMID: 17982022, PMID: 28801986), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 G250W missense unknown ABL1 G250W lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250W has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 G251D missense unknown ABL1 G251D lies within the protein kinase domain of the Abl1 protein (UniProt.org). G251D has been identified in the scientific literature (PMID: 17947479), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 G251E missense unknown ABL1 G251E lies within the protein kinase domain of the Abl1 protein (UniProt.org). G251E has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 G321L missense gain of function - predicted ABL1 G321L (corresponding to G340L in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). G321L does not result in increased phosphorylation of CRKL by Abl1, but leads to increased cytoplasmic Abl1 retention and is associated with increased cell survival in culture (PMID: 26758680), and therefore, is predicted to lead to a gain of Abl1 protein function.
ABL1 G463S missense unknown ABL1 G463S lies within the protein kinase domain of the Abl1 protein (UniProt.org). G463S has been associated with resistance to BCR-ABL inhibitors in the context of BCR-ABL1 (PMID: 31826340), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 H295_P296insH insertion unknown ABL1 H295_P296insH results in the insertion of one amino acid in the protein kinase domain of the Abl1 protein between amino acids 295 and 296 (UniProt.org). H295_P296insH has been identified in sequencing studies (PMID: 21442193), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 H295dup duplication unknown ABL1 H295dup indicates the insertion of the duplicate amino acid, histidine (H)-295, in the protein kinase domain of the Abl1 protein (UniProt.org). H295dup has been identified in sequencing studies (PMID: 21442193), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 H396P missense unknown ABL1 H396P lies within the protein kinase domain of the Abl1 protein (UniProt.org). H396P is predicted to lead to activation of Abl1 in structural analyses, and is associated Abl1 inhibitor resistance (PMID: 16424036, PMID: 21481795), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 H396R missense unknown ABL1 H396R lies within the protein kinase domain of the Abl1 protein (UniProt.org). H396R has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28467002), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 I242M missense unknown ABL1 I242M lies within the protein kinase domain of the Abl1 protein (UniProt.org). I242M does not result in expression of the Abl1 protein or phosphorylation of the downstream signaling molecule Crkl in culture (PMID: 26758680), but has not been fully biochemically characterized and therefore, its effect on Abl1 protein function is unknown.
ABL1 I432M missense unknown ABL1 I432M lies within the protein kinase domain of the Abl1 protein (UniProt.org). I432M has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 I502L missense unknown ABL1 I502L does not lie within any known functional domains of the Abl1 protein (UniProt.org). I502L has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 K262N missense unknown ABL1 K262N lies within the protein kinase domain of the Abl1 protein (UniProt.org). K262N has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 K294E missense unknown ABL1 K294E lies within the protein kinase domain of the Abl1 protein (UniProt.org). K294E has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 K357dup duplication unknown ABL1 K357dup indicates the insertion of the duplicate amino acid, lysine (K)-357, in the protein kinase domain of the Abl1 protein (UniProt.org). K357dup has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 22387050), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022). Y
ABL1 K596* nonsense loss of function - predicted ABL1 K596* results in a premature truncation of the Abl1 protein at amino acid 596 of 1130 (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), K596* is predicted to result in a loss of Abl1 protein function.
ABL1 K609del deletion unknown ABL1 K609del (also reported as K628del in isoform IB) results in the deletion of an amino acid in nuclear localization signal motif 1 of the Abl1 protein at amino acid 609 (UniProt.org). K609del has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 L248R missense unknown ABL1 L248R lies within the protein kinase domain of the Abl1 protein (UniProt.org). L248R has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928, PMID: 31493432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 L248V missense unknown ABL1 L248V lies within the protein kinase domain of the Abl1 protein (UniProt.org). L248V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 L298V missense unknown ABL1 L298V lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 L298V has been demonstrated to confer drug resistance in the context of BCR-ABL1 (PMID: 27868464), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 L302H missense unknown ABL1 L302H lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 L302H has been associated with secondary drug resistance in the context of RANBP2-ABL1 (PMID: 33390067), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 L384M missense unknown ABL1 L384M lies within the protein kinase domain of the Abl1 protein (UniProt.org). L384M has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 L387M missense unknown ABL1 L387M lies within the protein kinase domain of the Abl1 protein (UniProt.org). L387M has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28451802), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 M237R missense unknown ABL1 M237R does not lie within any known functional domains of the Abl1 protein (UniProt.org). M237R has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 M237V missense unknown ABL1 M237V does not lie within any known functional domains of the Abl1 protein (UniProt.org). M237V has been identified in the scientific literature (PMID: 26603839, PMID: 16527898, PMID: 20595523), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 M244V missense unknown ABL1 M244V lies within the protein kinase domain of the Abl1 protein (UniProt.org). M244V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 M343T missense unknown ABL1 M343T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M343T has been identified in the scientific literature (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022).
ABL1 M351T missense loss of function - predicted ABL1 M351T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M351T results in loss of inhibitor binding (PMID: 24456693) and has been demonstrated to occur as a secondary resistance mutation (PMID: 16046538, PMID: 16880519), and in the context of BCR-ABL1 leads to decreased transformation activity and kinase activity compared to wild-type BCR-ABL1 (PMID: 16046538, PMID: 16880519), and individually results in decreased kinase activity in cell culture (PMID: 33820471), and therefore, is predicted to lead to a loss of Abl1 protein function. Y
ABL1 M388L missense unknown ABL1 M388L lies within the protein kinase domain of the Abl1 protein (UniProt.org). M388L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 M437I missense unknown ABL1 M437I lies within the protein kinase domain of the Abl1 protein (UniProt.org). M437I has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 N368S missense unknown ABL1 N368S lies within the protein kinase domain of the Abl1 protein (UniProt.org). N368S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 P223S missense unknown ABL1 P223S does not lie within any known functional domains of the Abl1 protein (UniProt.org). P223S has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 P230E missense unknown ABL1 P230E does not lie within any known functional domains of the Abl1 protein (UniProt.org). P230E combined with ABL1 P232E results in constitutive activation of Abl1 in an in vitro kinase assay (PMID: 20519627) and increased phosphorylation in cultured cells (PMID: 18354488), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown.
ABL1 P309fs frameshift loss of function - predicted ABL1 P309fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 309 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), P309fs is predicted to result in a loss of Abl1 protein function.
ABL1 P310L missense unknown ABL1 P310L lies within the protein kinase domain of the Abl1 protein (UniProt.org). P310L has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 P465S missense gain of function ABL1 P465S lies within the protein kinase domain of the Abl1 protein (UniProt.org). P465S has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 23811600, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). Y
ABL1 P918S missense unknown ABL1 P918S lies within the DNA-binding domain of the Abl1 protein (UniProt.org). P918S has been identified in the scientific literature (PMID: 27900369), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 P980L missense unknown ABL1 P980L lies within the F-actin-binding region of the Abl1 protein (UniProt.org). P980L has not been characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 Q252H missense unknown ABL1 Q252H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q252H results in a loss of inhibitor binding and has also been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 Q346L missense unknown ABL1 Q346L lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q346L has been identified in the scientific literature (PMID: 21762985), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 R239C missense unknown ABL1 R239C does not lie within any known functional domains of the Abl1 protein (UniProt.org). R239C has been identified in sequencing studies (PMID: 29269125), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 R332W missense gain of function ABL1 R332W (corresponding to R351W in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). R332W results in increased Abl1 kinase activity, as demonstrated by modest increase in CRKL phosphorylation, and increased cytoplasmic retention of Abl1 in cell culture (PMID: 26758680).
ABL1 R362fs frameshift loss of function - predicted ABL1 R362fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 362 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), R362fs is predicted to result in a loss of Abl1 protein function.
ABL1 R362T missense unknown ABL1 R362T lies within the protein kinase domain of the Abl1 protein (UniProt.org). R362T has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 R386M missense unknown ABL1 R386M lies within the protein kinase domain of the Abl1 protein (UniProt.org). R386M has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 R577* nonsense loss of function - predicted ABL1 R577* results in a premature truncation of the Abl1 protein at amino acid 577 of 1130 (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), R577* is predicted to result in a loss of Abl1 protein function.
ABL1 R639* nonsense loss of function - predicted ABL1 R639* results in a premature truncation of the Abl1 protein at amino acid 639 of 1130 (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), R639* is predicted to result in a loss of Abl1 protein function.
ABL1 S417Y missense unknown ABL1 S417Y lies within the protein kinase domain of the Abl1 protein (UniProt.org). S417Y has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 30082224), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 S972L missense unknown ABL1 S972L lies in the F-actin-binding region of the Abl1 protein (UniProt.org). S972L has been identified in sequencing studies (PMID: PMID: 25082755) but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 T277I missense unknown ABL1 T277I lies within the protein kinase domain of the Abl1 protein (UniProt.org). T277I has been identified in sequencing studies (PMID: 26164066, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 T315A missense unknown ABL1 T315A lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315A has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 17339191, PMID: 17710227, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315C missense unknown ABL1 T315C lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315C is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315D missense unknown ABL1 T315D lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315D is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315E missense unknown ABL1 T315E lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315E is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2022). Y
ABL1 T315F missense unknown ABL1 T315F lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315F is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2022). Y
ABL1 T315G missense unknown ABL1 T315G lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315G is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315H missense unknown ABL1 T315H lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315H is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2022). Y
ABL1 T315K missense unknown ABL1 T315K lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315K is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315L missense unknown ABL1 T315L lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 27813432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315N missense unknown ABL1 T315N lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315N has been associated with resistance to Abl1 inhibitors (PMID: 16046538), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315P missense unknown ABL1 T315P lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315P is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315Q missense unknown ABL1 T315Q lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315Q is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315R missense unknown ABL1 T315R lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315R is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315S missense unknown ABL1 T315S lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315S is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315V missense unknown ABL1 T315V lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022). Y
ABL1 T315W missense unknown ABL1 T315W lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315W is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315Y missense unknown ABL1 T315Y lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315Y is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 V289F missense unknown ABL1 V289F lies within the protein kinase domain of the Abl1 protein (UniProt.org). V289F has been identified in the scientific literature (PMID: 23355941, PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 V299L missense unknown ABL1 V299L lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 V299L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 18242697, PMID: 23086624, PMID: 30419862), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 V379I missense unknown ABL1 V379I lies within the protein kinase domain of the Abl1 protein (UniProt.org). V379I has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28467002), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 V422I missense unknown ABL1 V422I lies within the protein kinase domain of the Abl1 protein (UniProt.org). V422I has been identified in sequencing studies (PMID: 20595523), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 V468F missense gain of function ABL1 V468F lies within the protein kinase domain of the Abl1 protein (UniProt.org). V468F has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). Y
ABL1 Y226C missense gain of function ABL1 Y226C does not lie within any known functional domains of the Abl1 protein (UniProt.org). Y226C confers a gain of function to the Abl1 protein as demonstrated by increased STAT5 phosphorylation and elevated total phosphotyrosine levels in cultured cells (PMID: 28288113).
ABL1 Y245C missense gain of function ABL1 Y245C (corresponds to Y226C in the canonical isoform) does not lie within any known functional domains of the Abl1 protein (UniProt.org). Y226C confers a gain of function to the Abl1 protein as demonstrated by increased STAT5 phosphorylation and elevated total phosphotyrosine levels in cultured cells (PMID: 28288113).
ABL1 Y253F missense unknown ABL1 Y253F lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y253F has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 18827185, PMID: 23044928), and results in increased kinase activity and enhanced cell proliferation in culture in the context of BCR-ABL in one study (PMID: 16880519), but in another study demonstrates reduced kinase activity in an in vitro assay (PMID: 33820471), and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 Y253H missense unknown ABL1 Y253H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y253H has been associated with resistance to Abl1 inhibitors (PMID: 29375916, PMID: 16482207), and demonstrates a modest increase in catalytic efficiency (kcat/km) in an in vitro assay (PMID: 30684523), but does not result in increased kinase activity or growth advantage in the context of BCR-ABL1 compared to wild-type BCR-ABL1 (PMID: 16482207), and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 Y456C missense unknown ABL1 Y456C lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y456C has been identified in the scientific literature (PMID: 23355941, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ALK A1047T missense unknown ALK A1047T lies within the transmembrane domain of the Alk protein (UniProt.org). A1047T has been identified in sequencing studies (PMID: 28524162), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK A1200_G1201delinsW indel unknown ALK A1200_G1201delinsW results in deletion of an alanine (A) and a glycine (G) from aa 1200 to aa 1201 in the protein kinase domain of the Alk protein, combined with the insertion of a tryptophan (W) at the same site (UniProt.org). A1200_G1201delinsW has been associated with secondary drug resistance to some ALK inhibitors (PMID: 34548910), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jun 2022). Y
ALK A1200V missense no effect - predicted ALK A1200V lies within the protein kinase domain of the Alk protein (UniProt.org). A1200V demonstrates kinase activity comparable to wild-type Alk in culture (PMID: 25517749), and therefore, is predicted to have no effect on Alk protein function.
ALK A1251T missense loss of function - predicted ALK A1251T lies within the protein kinase domain of the Alk protein (UniProt.org). A1251T results in loss of kinase activity in an in vitro assay and is not transforming in cultured cells (PMID: 33674381), and therefore, is predicted to lead to a loss of Alk protein function.
ALK A1252V missense no effect - predicted ALK A1252V lies within the cytoplasmic domain of the Alk protein (UniProt.org). A1252V does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function.
ALK A1266D missense unknown ALK A1266D lies within the protein kinase domain of the Alk protein (UniProt.org). A1266D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022.
ALK A1266V missense no effect - predicted ALK A1266V lies within the protein kinase domain of the Alk protein (UniProt.org). A1266V has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK A195V missense no effect - predicted ALK A195V lies within the extracellular domain of the Alk protein (UniProt.org). A195V has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK A348D missense gain of function ALK A348D lies within the MAM domain 1 of the Alk protein (UniProt.org). A384D confers a gain of function to the Alk protein as demonstrated by increased cell proliferation in the absence of growth factor and colony formation in culture (PMID: 26032424).
ALK A585T missense no effect - predicted ALK A585T lies within the MAM domain 2 of the Alk protein (UniProt.org). A585T has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK C1021V missense no effect - predicted ALK C1021V lies within the extracellular domain of the Alk protein (UniProt.org). C1021V does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function.
ALK C1097A missense unknown ALK C1097A lies within the cytoplasmic domain of the Alk protein (UniProt.org). C1097A is not activating in an in vitro assay and is weakly transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK C1156F missense unknown ALK C1156F lies within the protein kinase domain of the Alk protein (UniProt.org). C1156F has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034, PMID: 30322862), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK C928Lfs*20 frameshift loss of function - predicted ALK C928Lfs*20 indicates a shift in the reading frame starting at amino acid 928 and terminating 20 residues downstream causing a premature truncation of the 1620 amino acid Alk protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), C928Lfs*20 is predicted to lead to a loss of Alk protein function.
ALK C990R missense unknown ALK C990R lies within the extracellular domain of the Alk protein (UniProt.org). C990R increased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK D1091N missense unknown ALK D1091N lies within the cytoplasmic domain of the Alk protein (UniProt.org). D1091N was observed to increase ERK activation in the presence of agonist antibodies (PMID: 23104988), but is unable to transform cultured cells (PMID: 23104988), and therefore, its effect on Alk protein function is unknown.
ALK D1163N missense gain of function - predicted ALK D1163N lies within the protein kinase domain of the Alk protein (UniProt.org). D1163N is not transforming in cultured cells but is activating in an in vitro assay (PMID: 33674381), and therefore, is predicted to lead to a gain of Alk protein function.
ALK D1203fs frameshift loss of function - predicted ALK D1203fs results in a change in the amino acid sequence of the Alk protein beginning at aa 1203 of 1620, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the ATP binding site (UniProt.org), D1203fs is predicted to lead to a loss of Alk protein function.
ALK D1203N missense unknown ALK D1203N lies within the protein kinase domain of the Alk protein (UniProt.org). D1203N has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 25421750, PMID: 27432227, PMID: 28434515), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK D1249fs frameshift loss of function - predicted ALK D1249fs results in a change in the amino acid sequence of the Alk protein beginning at aa 1249 of 1620, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the ATP binding site (UniProt.org), D1249fs is predicted to lead to a loss of Alk protein function.
ALK D1270G missense loss of function - predicted ALK D1270G lies within the protein kinase domain of the Alk protein (UniProt.org). D1270G results in loss of kinase activity in in vitro assays and is not transforming in culture (PMID: 33674381, PMID: 25517749), and therefore, is predicted to lead to a loss of Alk protein function.
ALK D1311N missense no effect - predicted ALK D1311N lies within the protein kinase domain of the Alk protein (UniProt.org). D1311N does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function.
ALK D1349H missense unknown ALK D1349H lies within the protein kinase domain of the Alk protein (UniProt.org). D1349H is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK D1529E missense no effect - predicted ALK D1529E lies within the cytoplasmic domain of the Alk protein (UniProt.org). D1529E has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK D1529G missense unknown ALK D1529G lies within the cytoplasmic domain of the Alk protein (UniProt.org). D1529G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK D94N missense unknown ALK D94N lies within the extracellular domain of the Alk protein (UniProt.org). D94N has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK E1129V missense unknown ALK E1129V lies within the protein kinase domain of the Alk protein (UniProt.org). E1129V has been identified in the scientific literature (PMID: 34890832, PMID: 36093526, PMID: 33161228), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022).
ALK E1154K missense unknown ALK E1154K lies within the protein kinase domain of the Alk protein (UniProt.org). E1154K has been identified in the scientific literature (PMID: 31585938), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK E1161A missense unknown ALK E1161A lies within the protein kinase domain of the Alk protein (UniProt.org). E1161A is not activating in an in vitro assay and is weakly transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK E1242K missense unknown ALK E1242K lies within the protein kinase domain of the Alk protein (UniProt.org). E1242K is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK E1303K missense unknown ALK E1303K lies within the protein kinase domain of the Alk protein (UniProt.org). E1303K has been identified in the scientific literature (PMID: 29978950), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK E1400D missense unknown ALK E1400D lies within the cytoplasmic domain of the Alk protein (UniProt.org). E1400D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK E1407K missense unknown ALK E1407K lies within the cytoplasmic domain of the Alk protein (UniProt.org). E1407K has been identified in the scientific literature (PMID: 29290262, PMID: 35042152), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK E310D missense unknown ALK E310D lies within the MAM domain 1 of the Alk protein (UniProt.org). E310D has been identified in sequencing studies (PMID: 28915720), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jun 2022).
ALK E717K missense unknown ALK E717K lies within the extracellular domain of the Alk protein (UniProt.org). E717K has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK E862D missense unknown ALK E862D lies within the extracellular domain of the Alk protein (UniProt.org). E862D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK E994K missense no effect - predicted ALK E994K lies within the extracellular domain of the Alk protein (UniProt.org). E994K has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK F1098V missense unknown ALK F1098V lies within the cytoplasmic domain of the Alk protein (UniProt.org). F1098V is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK F1174C missense gain of function ALK F1174C lies within the protein kinase domain of the Alk protein (UniProt.org). F1174C confers a gain of function to Alk, as indicated by constitutive Alk phosphorylation in cell culture (PMID: 24509625, PMID: 22072639).
ALK F1174I missense gain of function ALK F1174I lies within the protein kinase domain of the Alk protein (UniProt.org). F1174I results in ligand-independent phosphorylation of the Alk protein, activation of Erk, Stat3 pathways, and is transforming in cell culture (PMID: 23104988).
ALK F1174L missense gain of function ALK F1174L lies within the protein kinase domain of the Alk protein (UniProt.org). F1174L confers a gain of function to the Alk protein as indicated by transformation activity and increased cell proliferation in culture (PMID: 18923525, PMID: 29533785, PMID: 29907598), and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 21030459, PMID: 31452835). Y
ALK F1174S missense gain of function ALK F1174S lies within the protein kinase domain of the Alk protein (UniProt.org). F1174S results in ligand-independent activation of the Alk protein and increased Erk phosphorylation in culture (PMID: 21059859), activation in an in vitro assay (PMID: 33674381), and transformation of cells in culture (PMID: 21059859, PMID: 33674381).
ALK F1174V missense gain of function - predicted ALK F1174V lies within the protein kinase domain of the Alk protein (UniProt.org). F1174V is predicted to confer a gain of function to the Alk protein as indicated by constitutive activation of the Alk protein in cell culture (PMID: 21242967), and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 24675041). Y
ALK F1245C missense gain of function ALK F1245C lies within the protein kinase domain of the Alk protein (UniProt.org). F1245C results in increased downstream signaling and is transforming in cell culture (PMID: 21838707, PMID: 25517749). Y
ALK F1245I missense unknown ALK F1245I lies within the protein kinase domain of the Alk protein (UniProt.org). F1245I has been identified in the scientific literature (PMID: 30778092), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK F1245L missense unknown ALK F1245L lies within the protein kinase domain of the Alk protein (UniProt.org). F1245L has been identified in the scientific literature (PMID: 30867766, PMID: 18923524), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK F1245Q missense unknown ALK F1245Q lies within the protein kinase domain of the Alk protein (UniProt.org). F1245Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK F1245V missense gain of function ALK F1245V lies within the protein kinase domain of the Alk protein (UniProt.org). F1245V confers a gain of function to the Alk protein, as it results in increased Alk kinase activity in vitro and leads to transformation activity in cell culture (PMID: 25517749, PMID: 33674381, PMID: 25517749).
ALK F1271L missense unknown ALK F1271L lies within the protein kinase domain of the Alk protein (UniProt.org). F1271L is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK F457L missense no effect - predicted ALK F457L lies within the LDL-receptor class A domain of the Alk protein (UniProt.org). F457L has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK F856S missense gain of function ALK F856S lies within the extracellular domain of the Alk protein (UniProt.org). F856S confers a gain of function to the Alk protein as demonstrated by increased cell proliferation in the absence of growth factor and colony formation in culture (PMID: 26032424).
ALK G1123D missense unknown ALK G1123D lies within the protein kinase domain of the Alk protein (UniProt.org). G1123D has been demonstrated to confer drug resistance in cell culture (PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1123S missense unknown ALK G1123S lies within the protein kinase domain of the Alk protein (UniProt.org). G1123S has been demonstrated to confer drug resistance in culture (PMID: 26134233, PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1128A missense gain of function ALK G1128A lies within the protein kinase domain of the Alk protein (UniProt.org). G1128A confers a gain of function to the Alk protein as demonstrated by increased activation in in vitro assays (PMID: 21838707, PMID: 33674381, PMID: 25517749) and transformation in cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749).
ALK G1128S missense unknown ALK G1128S lies within the protein kinase domain of the Alk protein (UniProt.org). G1128S has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1137R missense no effect - predicted ALK G1137R lies within the protein kinase domain of the Alk protein (UniProt.org). G1137R has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK G1201E missense gain of function ALK G1201E lies within the protein kinase domain of the Alk protein (UniProt.org). G1201E confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity and downstream Pi3k and Mapk pathway activation in culture (PMID: 21596819).
ALK G1201R missense unknown ALK G1201R lies within the protein kinase domain of the Alk protein (UniProt.org). G1201R is transforming (PMID: 33674381), but results in impaired kinase activity in cultured cells (PMID: 33674381, PMID: 28030793), and therefore, its effect on Alk protein function is unknown.
ALK G1202del deletion unknown ALK G1202del results in the deletion of an amino acid in the protein kinase domain of the Alk protein at amino acid 1202 (UniProt.org). G1202del has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 27432227), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1202K missense unknown ALK G1202K lies within the protein kinase domain of the Alk protein (UniProt.org). G1202K has been identified in the scientific literature (PMID: 33790576), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK G1202L missense unknown ALK G1202L lies within the protein kinase domain of the Alk protein (UniProt.org). G1202L has been identified in the scientific literature (PMID: 33380260), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK G1202R missense unknown ALK G1202R lies within the protein kinase domain of the Alk protein (UniProt.org). G1202R has been demonstrated to confer drug resistance in the context of ALK fusions (PMID: 22277784, PMID: 24736079), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1269A missense unknown ALK G1269A lies within the protein kinase domain of the Alk protein (UniProt.org). G1269A has been demonstrated to occur as a secondary resistance mutation in the context of ALK rearrangement (PMID: 30675302, PMID: 28434515, PMID: 29872693), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1269E missense unknown ALK G1269E lies within the protein kinase domain of the Alk protein (UniProt.org). G1269E has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK G1269S missense gain of function - predicted ALK G1269S lies within the protein kinase domain of the Alk protein (UniProt.org). G1269S is predicted to confer a gain of function on the Alk protein as indicated by increased phosphorylation of Alk (PMID: 21948233) and has been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK (PMID: 21948233, PMID: 22034911). Y
ALK G1286R missense unknown ALK G1286R lies within the protein kinase domain of the Alk protein (UniProt.org). G1286R is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK G1552R missense no effect - predicted ALK G1552R lies within the cytoplasmic domain of the Alk protein (UniProt.org). G1552R has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK G689V missense unknown ALK G689V lies within the extracellular domain of the Alk protein (UniProt.org). G689V has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK G746C missense unknown ALK G746C lies within the extracellular domain of the Alk protein (UniProt.org). G746C has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK G875R missense no effect - predicted ALK G875R lies within the extracellular domain of the Alk protein (UniProt.org). G875R has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in culture cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK G922R missense unknown ALK G922R lies within the extracellular domain of the Alk protein (UniProt.org). G922R has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK H1030P missense unknown ALK H1030P lies within the extracellular domain of the ALK protein (UniProt.org). H1030P has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK H354Q missense no effect - predicted ALK H354Q lies within the MAM domain 1 of the Alk protein (UniProt.org). H354Q has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cell culture (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK I1170S missense gain of function ALK I1170S lies within the protein kinase domain of the Alk protein (UniProt.org). I1170S confers a gain of function to Alk as demonstrated by increased kinase activity in in vitro assays and transformation in cultured cells (PMID: 33674381, PMID: 25517749).
ALK I1170V missense gain of function - predicted ALK I1170V lies within the protein kinase domain of the Alk protein (UniProt.org). I1170V is not transforming in cultured cells but is activating in an in vitro assay (PMID: 33674381), and therefore, is predicted to lead to a gain of Alk protein function.
ALK I1171N missense gain of function ALK I1171N lies within the protein kinase domain of the Alk protein (UniProt.org). I1171N results in increased ligand-independent Alk phosphorylation and activation of the Stat pathway in culture (PMID: 23239810, PMID: 21838707), activation in in vitro assays (PMID: 33674381, PMID: 25517749), is transforming in cell culture (PMID: 23239810, (PMID: 33674381, PMID: 25517749), and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 27565911). Y
ALK I1171S missense unknown ALK I1171S lies within the protein kinase domain of the Alk protein (UniProt.org). I1171S has been demonstrated to confer drug resistance in the context of ALK fusions in culture (PMID: 27009859, PMID: 25393796, PMID: 26464158), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK I1171T missense gain of function ALK I1171T lies within the protein kinase domain of the Alk protein (UniProt.org). I1171T confers a gain of function on the Alk protein as indicated by ligand-independent autophosphorylation, activation of Erk1/2, and cell transformation (PMID: 29907598), and has been demonstrated to confer drug resistance in the context of ALK fusions in culture (PMID: 27009859). Y
ALK I1179V missense unknown ALK I1179V lies within the protein kinase domain of the Alk protein (UniProt.org). I1179V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK I1183T missense unknown ALK I1183T lies within the protein kinase domain of the Alk protein (UniProt.org). I1183T is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK I1250T missense loss of function ALK I1250T lies within the protein kinase domain of the Alk protein (UniProt.org). I1250T confers a loss of function on Alk as indicated by loss of kinase activity and loss of the ability to activate downstream signaling pathways in cell culture (PMID: 21804922).
ALK I1268V missense unknown ALK I1268V lies within the protein kinase domain of the Alk protein (UniProt.org). I1268V has been identified in the scientific literature (PMID: 31585938), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK I1461V missense unknown ALK I1461V lies within the cytoplasmic domain of the Alk protein (UniProt.org). I1461V has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK K1062M missense gain of function ALK K1062M lies within the cytoplasmic domain of the Alk protein (UniProt.org). K1062M confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity (PMID: 28199182) and increased AKT and ERK phosphorylation in in vitro assays (PMID: 21596819).
ALK K1491R missense no effect - predicted ALK K1491R lies within the cytoplasmic domain of the Alk protein (UniProt.org). K1491R has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK K1518N missense no effect - predicted ALK K1518N lies within the cytoplasmic domain of the Alk protein (UniProt.org). K1518N does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function.
ALK K1525E missense no effect - predicted ALK K1525E lies within the cytoplasmic domain of the Alk protein (UniProt.org). K1525E does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function.
ALK K894T missense unknown ALK K894T lies within the extracellular domain of the Alk protein (UniProt.org). K894T has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK L1122V missense unknown ALK L1122V lies within the protein kinase domain of the Alk protein (UniProt.org). L1122V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 29650534, PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1152M missense unknown ALK L1152M lies within the protein kinase domain of the Alk protein (UniProt.org). L1152M has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK L1152P missense unknown ALK L1152P lies within the protein kinase domain of the Alk protein (UniProt.org). L1152P has been demonstrated to confer drug resistance in the context of ALK rearrangement in culture (PMID: 24675041), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022). Y
ALK L1152R missense unknown ALK L1152R lies within the protein kinase domain of the Alk protein (UniProt.org). L1152R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 21791641, PMID: 27091190), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1152V missense unknown ALK L1152V lies within the protein kinase domain of the Alk protein (UniProt.org). L1152V is associated with decreased ALK inhibitor sensitivity in the context of an ALK fusion in culture (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022).
ALK L1196M missense gain of function ALK L1196M lies within the protein kinase domain of the Alk protein (UniProt.org). L1196M results in increased Alk kinase activity (PMID: 30258533), modest Alk autophosphorylation, and transformation in cell culture (PMID: 25517749), and confers resistance to Alk inhibitors in the context of ALK rearrangements in culture and in vivo (PMID: 21613408, PMID: 25421750, PMID: 31452835). Y
ALK L1196Q missense unknown ALK L1196Q lies within the protein kinase domain of the Alk protein (UniProt.org). L1196Q has been demonstrated to confer resistance to Alk inhibitors in the context of ALK rearrangements (PMID: 23239810, PMID: 25749034, PMID: 33209633), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022). Y
ALK L1198F missense gain of function ALK L1198F lies within the protein kinase domain of the Alk protein (UniProt.org). L1198F confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity and downstream Pi3k and Mapk pathway activation (PMID: 21596819).
ALK L1198H missense unknown ALK L1198H lies within the protein kinase domain of the Alk protein (UniProt.org). L1198H has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1198P missense gain of function - predicted ALK L1198P lies within the protein kinase domain of the Alk protein (UniProt.org). L1198P is predicted to confer a gain of function on the Alk protein as indicated by increased phosphorylation of Alk and has been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK in culture (PMID: 21948233). Y
ALK L1198V missense unknown ALK L1198V lies within the protein kinase domain of the Alk protein (UniProt.org). L1198V has been demonstrated to confer resistance to ALK inhibitors in the context of EML4-ALK and ALK F1174L (PMID: 29636358), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1204F missense unknown ALK L1204F lies within the protein kinase domain of the Alk protein (UniProt.org). L1204F is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK L1204V missense unknown ALK L1204V lies within the protein kinase domain of the Alk protein (UniProt.org). L1204V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1256F missense unknown ALK L1256F lies within the protein kinase domain of the Alk protein (UniProt.org). L1256F demonstrates transforming and tumorigenic activity and confers drug resistance in the context of ALK fusions (PMID: 29650534, PMID: 30662002), but has not been individually characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1319V missense unknown ALK L1319V lies within the protein kinase domain of the Alk protein (UniProt.org). L1319V has been identified in the scientific literature (PMID: 33776709), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022).
ALK L560F missense no effect - predicted ALK L560F lies within the MAM domain 2 of the Alk protein (UniProt.org). L560F has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK L868Q missense unknown ALK L868Q lies within the extracellular domain of the Alk protein (UniProt.org). L868Q has not been characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK M1166R missense gain of function ALK M1166R lies within the protein kinase domain of the Alk protein (UniProt.org). M1166R confers a gain of function to the Alk protein, as indicated by ligand-independent activation of the Alk protein (PMID: 33674381, PMID: 25517749, PMID: 23104988), increased Erk and Stat3 phosphorylation in cell culture (PMID: 23104988), and transformation of cultured cells (PMID: 33674381, PMID: 25517749).
ALK M1166V missense unknown ALK M1166V lies within the protein kinase domain of the Alk protein (UniProt.org). M1166V has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK M1478T missense unknown ALK M1478T lies within the cytoplasmic domain of the Alk protein (UniProt.org). M1478T has been identified in sequencing studies (PMID: 27852271), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK M301I missense no effect - predicted ALK M301I lies within the MAM domain 1 of the Alk protein (UniProt.org). M301I has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in culture cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK M552I missense no effect - predicted ALK M552I lies within the MAM domain 2 of the Alk protein (UniProt.org). M552I has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK N1178H missense unknown ALK N1178H lies within the protein kinase domain of the Alk protein (UniProt.org). N1178H has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK P1112Q missense unknown ALK P1112Q lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1112Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P1139S missense unknown ALK P1139S lies within the protein kinase domain of the Alk protein (UniProt.org). P1139S has been associated with decreased sensitivity to some ALK inhibitors in the context of NPM1-ALK (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK P1213C missense unknown ALK P1213C lies within the protein kinase domain of the Alk protein (UniProt.org). P1213C is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK P1298S missense unknown ALK P1298S lies within the protein kinase domain of the Alk protein (UniProt.org). P1298S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P1543S missense unknown ALK P1543S lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1543S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK P157S missense unknown ALK P157S lies within the extracellular domain of the Alk protein (Uniprot.org). P157S has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P1599S missense unknown ALK P1599S lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1599S has been identified in sequencing studies (PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P279L missense unknown ALK P279L lies within the MAM domain 1 of the Alk protein (UniProt.org). P279L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P336S missense no effect - predicted ALK P336S lies within the MAM domain 1 of the Alk protein (UniProt.org). P336S has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK P36S missense unknown ALK P36S lies within the extracellular domain of the Alk protein (UniProt.org). P36S has been identified in sequencing studies (PMID: 20579941), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P40L missense unknown ALK P40L lies within the extracellular domain of the Alk protein (UniProt.org). P40L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK P858S missense no effect - predicted ALK P858S lies within the extracellular domain of the Alk protein (UniProt.org). P858S has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK Q1146K missense unknown ALK Q1146K lies within the protein kinase domain of the Alk protein (UniProt.org). Q1146K has been identified in the scientific literature (PMID: 34687488), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK Q1146P missense unknown ALK Q1146P lies within the protein kinase domain of the Alk protein (UniProt.org). Q1146P has been identified in the scientific literature (PMID: 31894386), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK Q1188_L1190del deletion unknown ALK Q1188_L1190del results in the deletion of three amino acids in the protein kinase domain of the Alk protein from amino acids 1188 to 1190 (UniProt.org). Q1188_L1190del has been identified in the scientific literature (PMID: 33887694), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1113Q missense unknown ALK R1113Q lies within the cytoplasmic domain of the Alk protein (UniProt.org). R1113Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1181H missense unknown ALK R1181H lies within the protein kinase domain of the Alk protein (UniProt.org). R1181H has been identified in the scientific literature (PMID: 35441911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1192P missense gain of function ALK R1192P lies within the protein kinase domain of the Alk protein (UniProt.org). R1192P confers a gain of function to the Alk protein as demonstrated by increased downstream signalling (PMID: 21838707), activation in in vitro assays (PMID: 33674381, PMID: 25517749), and transformation of cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749).
ALK R1192Q missense no effect - predicted ALK R1192Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1192Q does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function.
ALK R1209Q missense unknown ALK R1209Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1209Q leads to decreased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized, and therefore, its effect on Alk protein function is unknown.
ALK R1212C missense unknown ALK R1212C lies within the protein kinase domain of the Alk protein (UniProt.org). R1212C is not activating in an in vitro assay and is weakly transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK R1212H missense unknown ALK R1212H lies within the protein kinase domain of the Alk protein (UniProt.org). R1212H has been identified in sequencing studies (PMID: 21499247, PMID: 28912153, PMID: 28581676), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1231Q missense unknown ALK R1231Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1231Q is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK R1275L missense unknown ALK R1275L lies within the protein kinase domain of the Alk protein (UniProt.org). R1275L has been identified in the scientific literature (PMID: 27888620), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1275Q missense gain of function ALK R1275Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1275Q confers a gain of function to the Alk protein as demonstrated by transformation activity in cell culture and increased downstream signalling in in vitro assays (PMID: 21838707, PMID: 29533785).
ALK R1279Q missense unknown ALK R1279Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1279Q is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK R133H missense no effect - predicted ALK R133H lies within the extracellular domain of the Alk protein (UniProt.org). R133H has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK R284K missense unknown ALK R284K lies within MAM domain 1 of the Alk protein (UniProt.org). R284K has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R291C missense unknown ALK R291C lies within MAM domain 1 of the Alk protein (UniProt.org). R291C has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK R311H missense unknown ALK R311H lies within MAM domain 1 of the Alk protein (UniProt.org). R311H has been identified in sequencing studies (PMID: 30410351, PMID: 23202128, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK R395H missense unknown ALK R395H lies within MAM domain 1 of the Alk protein (UniProt.org). R395H has been identified in sequencing studies (PMID: 22877736), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK R401* nonsense loss of function - predicted ALK R401* results in a premature truncation of the Alk protein at amino acid 401 of 1620 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R401* is predicted to lead to a loss of Alk protein function.
ALK R401L missense unknown ALK R401L lies within MAM domain 1 of the Alk protein (UniProt.org). R401L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R401Q missense no effect - predicted ALK R401Q lies within the MAM domain 1 of the Alk protein (UniProt.org). R401Q has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted have no effect on Alk protein function.
ALK R412C missense no effect - predicted ALK R412C lies within the MAM domain 1 of the Alk protein (UniProt.org). R412C does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function.
ALK R753Q missense unknown ALK R753Q lies within the extracellular domain of the Alk protein (UniProt.org). R753Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK S1053F missense unknown ALK S1053F lies within the transmembrane domain of the Alk protein (UniProt.org). S1053F has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK S1206C missense unknown ALK S1206C lies within the protein kinase domain of the Alk protein (UniProt.org). S1206C has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK S1206F missense unknown ALK S1206F lies within the protein kinase domain of the Alk protein (UniProt.org). S1206F has been identified in the scientific literature (PMID: 27565908, PMID: 31712133), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK S1206R missense unknown ALK S1206R lies within the protein kinase domain of the Alk protein (UniProt.org). S1206R has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022). Y
ALK S1206Y missense unknown ALK S1206Y lies within the protein kinase domain of the Alk protein (UniProt.org). S1206Y has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK rearrangements (PMID: 22277784, PMID: 24675041, PMID: 25727400), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK S529Y missense no effect - predicted ALK S529Y lies within the MAM domain 2 of the Alk protein (UniProt.org). S529Y has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK S711R missense no effect - predicted ALK S711R lies within the extracellular domain of the Alk protein (UniProt.org). S711R has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK S865P missense no effect - predicted ALK S865P lies within the extracellular domain of the Alk protein (UniProt.org). S865P has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK T1151dup duplication unknown ALK T1151dup indicates the insertion of the duplicate amino acid, threonine (T)-1151, in the protein kinase domain of the Alk protein (UniProt.org). T1151dup has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22277784, PMID: 20695522), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK T1151K missense unknown ALK T1151K lies within the protein kinase domain and inhibitor binding region of the Alk protein (UniProt.org). T1151K has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 28676215, PMID: 30519133), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022). Y
ALK T1151M missense gain of function - predicted ALK T1151M lies within the protein kinase domain and inhibitor binding region of the Alk protein (UniProt.org). T1151M has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 28676215, PMID: 27009859), is not transforming in culture but is activating in in vitro assays (PMID: 33674381, PMID: 25517749), and therefore, is predicted to lead to a gain of Alk protein function. Y
ALK T1343I missense unknown ALK T1343I lies within the protein kinase domain of the Alk protein (UniProt.org). T1343I is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK T429I missense unknown ALK T429I lies within the extracellular domain of the Alk protein (UniProt.org). T429I has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK T535N missense unknown ALK T535N lies within MAM domain 2 of the Alk protein (UniProt.org). T535N has been identified in sequencing studies (PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK T680I missense no effect - predicted ALK T680I lies within the MAM domain 2 of the Alk protein (UniProt.org). T680I has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK V1180L missense unknown ALK V1180L lies within the protein kinase domain of the Alk protein (UniProt.org). V1180L has been demonstrated to occur as a secondary resistance mutation in the context of EML4-ALK (PMID: 25228534, PMID: 27432227, PMID: 35324529), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022). Y
ALK V1413G missense unknown ALK V1413G lies within the cytoplasmic domain of the Alk protein (UniProt.org). V1413G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK V1545I missense no effect - predicted ALK V1545I lies within the cytoplasmic domain of the Alk protein (UniProt.org). V1545I has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK V163L missense unknown ALK V163L lies within the extracellular domain of the Alk protein (UniProt.org). V163L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK V198M missense unknown ALK V198M lies within the extracellular domain of the Alk protein (UniProt.org). V198M has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK V476A missense no effect - predicted ALK V476A lies within the extracellular domain of the Alk protein (UniProt.org). V476A has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
ALK V66A missense unknown ALK V66A lies within the extracellular domain of the Alk protein (UniProt.org). V66A has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK V66G missense unknown ALK V66G lies within the extracellular domain of the Alk protein (UniProt.org). V66G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK W501* nonsense loss of function - predicted ALK W501* results in a premature truncation of the Alk protein at amino acid 501 of 1620 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W501* is predicted to lead to a loss of Alk protein function.
ALK Y1096A missense unknown ALK Y1096A lies within the cytoplasmic domain of the Alk protein (UniProt.org). Y1096A is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK Y1278A missense unknown ALK Y1278A lies within the protein kinase domain of the Alk protein (UniProt.org). Y1278A is not activating in an in vitro assay but is transforming in cultured cells (PMID: 33674381), and therefore, its effect on Alk protein function is unknown.
ALK Y1278E missense unknown ALK Y1278E lies within the protein kinase domain of the Alk protein (UniProt.org). Y1278E is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
ALK Y1282E missense unknown ALK Y1282E lies within the protein kinase domain of the Alk protein (UniProt.org). Y1282E is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
APC A1225G missense unknown APC A1225G does not lie within any known functional domains of the Apc protein (UniProt.org). A1225G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2022).
APC A1296fs frameshift loss of function - predicted APC A1296fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1296 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1296fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1296 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1296V missense unknown APC A1296V lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1296V has been identified in sequencing studies (PMID: 10666372), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1305fs frameshift loss of function - predicted APC A1305fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1305 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1305fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1305 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1305G missense unknown APC A1305G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1305G has been identified in sequencing studies (PMID: 18369740), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1316fs frameshift loss of function - predicted APC A1316fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1316 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1316fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1316 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1325fs frameshift loss of function - predicted APC A1325fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1325 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1325fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1325 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1351fs frameshift loss of function - predicted APC A1351fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1351 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1351fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1351 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1402fs frameshift loss of function - predicted APC A1402fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1402 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1402fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1402 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1446_Q1447insDIA insertion unknown APC A1446_Q1447insDIA results in the insertion of three amino acids in the Apc protein between amino acids 1446 and 1447 (UniProt.org). A1446_Q1447insDIA has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1446fs frameshift loss of function - predicted APC A1446fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1446 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1446fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1446 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1470fs frameshift loss of function - predicted APC A1470fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1470 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1470fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1470 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1471fs frameshift loss of function - predicted APC A1471fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1471 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1471fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1471 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1475fs frameshift loss of function - predicted APC A1475fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1475 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1475fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1475 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1485fs frameshift loss of function - predicted APC A1485fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1485 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1485fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1485 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1492fs frameshift loss of function - predicted APC A1492fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1492 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1492fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1492 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A1914* nonsense loss of function - predicted APC A1914* results in a premature truncation of the Apc protein at amino acid 1914 of 2843 (UniProt.org). A1914* results in reduced suppression of beta-catenin activity in a reporter assay (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function.
APC A214V missense unknown APC A214V lies within a coiled-coil domain of the Apc protein (UniProt.org). A214V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A2690T missense unknown APC A2690T does not lie within any known functional domains of the Apc protein (UniProt.org). A2690T has been identified in sequencing studies (PMID: 24082139), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A928fs frameshift loss of function - predicted APC A928fs results in a change in the amino acid sequence of the Apc protein beginning at aa 928 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A928fs has not been characterized, however, due to the effects of other truncation mutations downstream of A928 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC A952Qfs*10 frameshift loss of function - predicted APC A952Qfs*10 indicates a shift in the reading frame starting at amino acid 952 and terminating 10 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). A952Qfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of A952 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC C1274fs frameshift loss of function - predicted APC C1274fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1274 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1274fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1274 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC C1289fs frameshift loss of function - predicted APC C1289fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1289 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1289fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1289 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC C1387* nonsense loss of function - predicted APC C1387* results in a premature truncation of the Apc protein at amino acid 1387 of 2843 (UniProt.org). C1387* has not been characterized, however, due to the effects of other truncation mutations downstream of C1387 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC C1387fs frameshift loss of function - predicted APC C1387fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1387 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1387fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1387 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC C1410* nonsense loss of function - predicted APC C1410* results in a premature truncation of the Apc protein at amino acid 1410 of 2843 (UniProt.org). C1410* has not been characterized, however, due to the effects of other truncation mutations downstream of C1410 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC C1410S missense unknown APC C1410S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). C1410S has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC C1578fs frameshift unknown APC C1578fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1578 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1578fs has been identified in sequencing studies (PMID: 20102718), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC C207* nonsense loss of function - predicted APC C207* results in a premature truncation of the Apc protein at amino acid 207 of 2843 (UniProt.org). C207* has not been characterized, however, due to the effects of other truncation mutations downstream of C207 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1003N missense unknown APC D1003N lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1003N has been identified in sequencing studies (PMID: 25545608, PMID: 23085758), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1022G missense unknown APC D1022G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1022G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1058G missense unknown APC D1058G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1058G has been identified in the scientific literature (PMID: 28576136), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1297A missense unknown APC D1297A lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1297A has been identified in sequencing studies (PMID: 17257127), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1297fs frameshift loss of function - predicted APC D1297fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1297 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1297fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1297 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1318fs frameshift loss of function - predicted APC D1318fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1318 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1318fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1318 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1394fs frameshift loss of function - predicted APC D1394fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1394 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1394fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1394 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1422fs frameshift loss of function - predicted APC D1422fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1422 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1422fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1422 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1425fs frameshift loss of function - predicted APC D1425fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1425 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1425fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1425 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1484fs frameshift loss of function - predicted APC D1484fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1484 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1484fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1484 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1486fs frameshift loss of function - predicted APC D1486fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1486 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1486fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1486 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC D1636fs frameshift unknown APC D1636fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1636 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1636fs has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2022).
APC D2490N missense unknown APC D2490N does not lie within any known functional domains of the Apc protein (UniProt.org). D2490N has been identified in sequencing studies (PMID: 32913981), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E109* nonsense loss of function - predicted APC E109* results in a premature truncation of the Apc protein at amino acid 109 of 2843 (UniProt.org). E109* has not been characterized, however, due to the effects of other truncation mutations downstream of E109 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1284K missense unknown APC E1284K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1284K has been identified in the scientific literature (PMID: 28352668, PMID: 15072829), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1286G missense unknown APC E1286G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1286G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1295* nonsense loss of function - predicted APC E1295* results in a premature truncation of the Apc protein at amino acid 1295 of 2843 (UniProt.org). E1295* has not been characterized, however, due to the effects of other truncation mutations downstream of E1295 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1295fs frameshift loss of function - predicted APC E1295fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1295 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1295fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1295 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E129Q missense unknown APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org). E129Q has been identified in sequencing studies (PMID: 24728327, PMID: 31703593), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1306* nonsense loss of function - predicted APC E1306* results in a premature truncation of the Apc protein at amino acid 1306 of 2843 (UniProt.org). E1306* has not been characterized, however, due to the effects of other truncation mutations downstream of E1306 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1306fs frameshift loss of function - predicted APC E1306fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1306 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1306fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1306 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1306K missense unknown APC E1306K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1306K has been identified in sequencing studies (PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1309* nonsense loss of function - predicted APC E1309* results in a premature truncation of the Apc protein at amino acid 1309 of 2843 (UniProt.org). E1309* lacks the ability to suppress beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function.
APC E1309Afs*3 frameshift loss of function APC E1309Afs*3 indicates a shift in the reading frame starting at amino acid 1309 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Afs*3 results in a loss of function reducing the ability of Apc to properly regulate beta-catenin (PMID: 10213492, PMID: 17189293).
APC E1309Dfs*4 frameshift loss of function - predicted APC E1309Dfs*4 indicates a shift in the reading frame starting at amino acid 1309 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Dfs*4 has not been characterized, but can be predicted to lead to a loss of Apc protein function based on the effects of a similar frameshift mutation at E1309 (PMID: 10213492, PMID: 17189293).
APC E1309fs frameshift loss of function - predicted APC E1309fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1309 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1309fs has not been characterized, but can be predicted to lead to a loss of Apc protein function based on the effects of a similar frameshift mutation at E1309 (PMID: 10213492, PMID: 17189293).
APC E1317* nonsense loss of function - predicted APC E1317* results in a premature truncation of the Apc protein at amino acid 1317 of 2843 (UniProt.org). E1317* has not been characterized, however, due to the effects of other truncation mutations downstream of E1317 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1317Q missense unknown APC E1317Q lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1317Q has been identified in the scientific literature (PMID: 14578138, PMID: 32087273), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2022).
APC E1322* nonsense loss of function - predicted APC E1322* results in a premature truncation of the Apc protein at amino acid 1322 of 2843 (UniProt.org). E1322* has not been characterized, however, due to the effects of other truncation mutations downstream of E1322 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1345* nonsense loss of function - predicted APC E1345* results in a premature truncation of the Apc protein at amino acid 1345 of 2843 (UniProt.org). E1345* has not been characterized, however, due to the effects of other truncation mutations downstream of E1345 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1353* nonsense loss of function - predicted APC E1353* results in a premature truncation of the Apc protein at amino acid 1353 of 2843 (UniProt.org). E1353* has not been characterized, however, due to the effects of other truncation mutations downstream of E1353 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1374* nonsense loss of function - predicted APC E1374* results in a premature truncation of the Apc protein at amino acid 1374 of 2843 (UniProt.org). E1374* has not been characterized, however, due to the effects of other truncation mutations downstream of E1374 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1379* nonsense loss of function - predicted APC E1379* results in a premature truncation of the Apc protein at amino acid 1379 of 2843 (UniProt.org). E1379* has not been characterized, however, due to the effects of other truncation mutations downstream of E1379 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1397* nonsense loss of function - predicted APC E1397* results in a premature truncation of the Apc protein at amino acid 1397 of 2843 (UniProt.org). E1397* has not been characterized, however, due to the effects of other truncation mutations downstream of E1397 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1408* nonsense loss of function - predicted APC E1408* results in a premature truncation of the Apc protein at amino acid 1408 of 2843 (UniProt.org). E1408* has not been characterized, however, due to the effects of truncation mutations downstream of E1408 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1451* nonsense loss of function - predicted APC E1451* results in a premature truncation of the Apc protein at amino acid 1451 of 2843 (UniProt.org). E1451* has not been characterized, however, due to the effects of other truncation mutations downstream of E1451 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1461* nonsense loss of function - predicted APC E1461* results in a premature truncation of the Apc protein at amino acid 1461 of 2843 (UniProt.org). E1461* has not been characterized, however, due to the effects of other truncation mutations downstream of E1461 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1464* nonsense loss of function - predicted APC E1464* results in a premature truncation of the Apc protein at amino acid 1464 of 2843 (UniProt.org). E1464* has not been characterized, however, due to the effects of other truncation mutations downstream of E1464 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1464fs frameshift loss of function - predicted APC E1464fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1464 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1464fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1464 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1494fs frameshift loss of function - predicted APC E1494fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1494 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1494fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1494 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1513* nonsense loss of function - predicted APC E1513* results in a premature truncation of the Apc protein at amino acid 1513 of 2843 (UniProt.org). E1513* has not been characterized, however, due to the effects of other truncation mutations downstream of E1513 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E1536fs frameshift loss of function - predicted APC E1536fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1536 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1536fs has not been characterized however, due to the effects of other truncation mutations downstream of 1536 (PMID: 10346819), E1536fs is predicted to lead to a loss of Apc protein function.
APC E1544* nonsense loss of function - predicted APC E1544* results in a premature truncation of the Apc protein at amino acid 1544 of 2843 (UniProt.org). E1544* has not been characterized however, due to the effects of other truncation mutations downstream of E1544 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1547* nonsense loss of function - predicted APC E1547* results in a premature truncation of the Apc protein at amino acid 1547 of 2843 (UniProt.org). E1547* has not been characterized however, due to the effects of other truncation mutations downstream of E1547 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1550fs frameshift loss of function - predicted APC E1550fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1550 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1550fs has not been characterized however, due to the effects of other truncation mutations downstream of E1550 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1552* nonsense loss of function - predicted APC E1552* results in a premature truncation of the Apc protein at amino acid 1552 of 2843 (UniProt.org). E1552* has not been characterized however, due to the effects of other truncation mutations downstream of E1552 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1554* nonsense loss of function - predicted APC E1554* results in a premature truncation of the Apc protein at amino acid 1554 of 2843 (UniProt.org). E1554* has not been characterized however, due to the effects of other truncation mutations downstream of E1554 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1554fs frameshift loss of function - predicted APC E1554fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1554 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1554fs has not been characterized however, due to the effects of other truncation mutations downstream of E1554 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E1577* nonsense unknown APC E1577* results in a premature truncation of the Apc protein at amino acid 1577 of 2843 (UniProt.org). E1577* is associated with elevated beta-catenin in a cell line (PMID: 10874025), but has not been fully biochemically characterized and therefore, its effect on Apc protein function is unknown.
APC E190* nonsense loss of function - predicted APC E190* results in a premature truncation of the Apc protein at amino acid 190 of 2843 (UniProt.org). E190* has not been characterized, however, due to the effects of other truncation mutations downstream of E190 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E484* nonsense loss of function - predicted APC E484* results in a premature truncation of the Apc protein at amino acid 484 of 2843 (UniProt.org). E484* has not been characterized, however, due to the effects of other truncation mutations downstream of E484 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC E582fs frameshift loss of function - predicted APC E582fs results in a change in the amino acid sequence of the Apc protein beginning at aa 582 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E582fs has not been characterized, however, due to the effects of other truncation mutations downstream of E582 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E658* nonsense loss of function - predicted APC E658* results in a premature truncation of the Apc protein at amino acid 658 of 2843 (UniProt.org). E658* has not been characterized, however, due to the effects of other truncation mutations downstream of E658 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E763* nonsense loss of function - predicted APC E763* results in a premature truncation of the Apc protein at amino acid 763 of 2843 (UniProt.org). E763* has not been characterized, however, due to the effects of other truncation mutations downstream of E763 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E853* nonsense loss of function - predicted APC E853* results in a premature truncation of the Apc protein at amino acid 853 of 2843 (UniProt.org). E853* has not been characterized, however, due to the effects of other truncation mutations downstream of E853 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC E868* nonsense loss of function - predicted APC E868* results in a premature truncation of the Apc protein at amino acid 868 of 2843 (UniProt.org). E868* has not been characterized, however, due to the effects of other truncation mutations downstream of E868 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC F1354fs frameshift loss of function - predicted APC F1354fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1354 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). F1354fs has not been characterized, however, due to the effects of other truncation mutations downstream of F1354 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC F1491fs frameshift loss of function - predicted APC F1491fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1491 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). F1491fs has not been characterized, however, due to the effects of other truncation mutations downstream of F1491 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC G1312* nonsense loss of function - predicted APC G1312* results in a premature truncation of the Apc protein at amino acid 1312 of 2843 (UniProt.org). G1312* has not been characterized, however, due to the effects of other truncation mutations downstream of G1312 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC G1312fs frameshift loss of function - predicted APC G1312fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1312 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). G1312fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1312 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC G1312R missense unknown APC G1312R lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). G1312R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC G1339_S1340dup duplication unknown APC G1339_S1340dup indicates the insertion of 2 duplicate amino acids, glycine (G)-1339 through serine (S)-1340, in the Apc protein (UniProt.org). G1339_S1340dup has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G1357fs frameshift loss of function - predicted APC G1357fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1357 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). G1357fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1357 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC G1416* nonsense loss of function - predicted APC G1416* results in a premature truncation of the Apc protein at amino acid 1416 of 2843 (UniProt.org). G1416* has not been characterized, however, due to the effects of other truncation mutations downstream of G1416 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC G1499* nonsense loss of function - predicted APC G1499* results in a premature truncation of the Apc protein at amino acid 1499 of 2843 (UniProt.org). G1499* has not been characterized, however, due to the effects of other truncation mutations downstream of G1499 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC G2303R missense unknown APC G2303R does not lie within any known functional domains of the Apc protein (UniProt.org). G2303R has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G2502S missense unknown APC G2502S does not lie within any known functional domains of the Apc protein (UniProt.org). G2502S has been identified in the scientific literature (PMID: 18612690, PMID: 24790607, PMID: 20233475), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G471* nonsense loss of function - predicted APC G471* results in a premature truncation of the Apc protein at amino acid 471 of 2843 (UniProt.org). G471* has not been characterized, however, due to the effects of other truncation mutations downstream of G471 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC G471E missense unknown APC G471E lies within ARM repeat 1 of the Apc protein (UniProt.org). G471E has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G907R missense unknown APC G907R does not lie within any known functional domains of the Apc protein (UniProt.org). G907R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jul 2022).
APC H1375fs frameshift loss of function - predicted APC H1375fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1375 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). H1375fs has not been characterized, however, due to the effects of other truncation mutations downstream of H1375 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC H1490fs frameshift loss of function - predicted APC H1490fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1490 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). H1490fs has not been characterized, however, due to the effects of other truncation mutations downstream of H1490 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC H2116R missense unknown APC H2116R does not lie within any known functional domains of the Apc protein (UniProt.org). H2116R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2022).
APC I1164fs frameshift loss of function - predicted APC I1164fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1164 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1164fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1164 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC I1307fs frameshift loss of function - predicted APC I1307fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1307 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1307fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1307 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC I1307K missense unknown APC I1307K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). I1307K has been associated with somatic instability of the APC gene in patient samples (PMID: 9724771, PMID: 24416237), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown.
APC I1307Kfs*14 frameshift loss of function - predicted APC I1307Kfs*14 indicates a shift in the reading frame starting at amino acid 1307 and terminating 14 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1307Kfs*14 has not been characterized, however, due to the effects of other truncation mutations downstream of I1307 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC I1311fs frameshift loss of function - predicted APC I1311fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1311 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1311fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1311 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC I1417* nonsense loss of function - predicted APC I1417* results in a premature truncation of the Apc protein at amino acid 1417 of 2843 (UniProt.org). I1417* has not been characterized, however, due to the effects of other truncation mutations downstream of I1417 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC I1557fs frameshift loss of function - predicted APC I1557fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1557 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1557fs has not been characterized however, due to the effects of other truncation mutations downstream of I1557 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC I1574* nonsense loss of function - predicted APC I1574* results in a premature truncation of the Apc protein at amino acid 1574 of 2843 (UniProt.org). I1574* (corresponding to I1572* in mouse) results in a loss of beta-catenin suppression in a reporter assay (PMID: 10346819), and therefore, is predicted to lead to a loss of Apc protein function.
APC I1913Afs*8 frameshift unknown APC I1913Afs*8 indicates a shift in the reading frame starting at amino acid 1913 and terminating 8 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1913Afs*8 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC I606fs frameshift loss of function - predicted APC I606fs results in a change in the amino acid sequence of the Apc protein beginning at aa 606 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I606fs has not been characterized, however, due to the effects of other truncation mutations downstream of I606 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC I880T missense unknown APC I880T does not lie within any known functional domains of the Apc protein (UniProt.org). I880T has been identified in sequencing studies (PMID: 9419979), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC K1308* nonsense loss of function - predicted APC K1308* results in a premature truncation of the Apc protein at amino acid 1308 of 2843 (UniProt.org). K1308* has not been characterized, however, due to the effects of other truncation mutations downstream of K1308 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1310* nonsense loss of function - predicted APC K1310* results in a premature truncation of the Apc protein at amino acid 1310 of 2843 (UniProt.org). K1310* has not been characterized, however, due to the effects of other truncation mutations downstream of K1310 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1310D missense unknown APC K1310D lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). K1310D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC K1310fs frameshift loss of function - predicted APC K1310fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1310 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1310fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1310 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1350* nonsense loss of function - predicted APC K1350* results in a premature truncation of the Apc protein at amino acid 1350 of 2843 (UniProt.org). K1350* has not been characterized, however, due to the effects of other truncation mutations downstream of K1350 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1363Rfs*10 frameshift loss of function - predicted APC K1363Rfs*10 indicates a shift in the reading frame starting at amino acid 1363 and terminating 10 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). K1363Rfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of K1363 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1370* nonsense loss of function - predicted APC K1370* results in a premature truncation of the Apc protein at amino acid 1370 of 2843 (UniProt.org). K1370* has not been characterized, however, due to the effects of other truncation mutations downstream of K1370 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1449fs frameshift loss of function - predicted APC K1449fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1449 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1449fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1449 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1462fs frameshift loss of function - predicted APC K1462fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1462 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1462fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1462 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K1555* nonsense loss of function - predicted APC K1555* results in a premature truncation of the Apc protein at amino acid 1555 of 2843 (UniProt.org). K1555* has not been characterized however, due to the effects of other truncation mutations downstream of K1555 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC K1555fs frameshift loss of function - predicted APC K1555fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1555 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1555fs has not been characterized however, due to the effects of other truncation mutations downstream of K1555 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC K1817fs frameshift unknown APC K1817fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1817 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1817fs has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC K560* nonsense loss of function - predicted APC K560* results in a premature truncation of the Apc protein at amino acid 560 of 2843 (UniProt.org). K560* has not been characterized, however, due to the effects of other truncation mutations downstream of K560 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC K716* nonsense loss of function - predicted APC K716* results in a premature truncation of the Apc protein at amino acid 716 of 2843 (UniProt.org). K716* has not been characterized, however, due to the effects of other truncation mutations downstream of K716 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L1129S missense unknown APC L1129S lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). L1129S has been identified in the scientific literature (PMID: 18166348, PMID: 15122587), but has not been characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC L1302fs frameshift loss of function - predicted APC L1302fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1302 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1302fs has not been characterized, however, due to the effects of truncation mutations downstream of L1302 (PMID: 10346819, PMID: 18199528), is predicted to lead to a loss of Apc protein function.
APC L1488* nonsense loss of function - predicted APC L1488* results in a premature truncation of the Apc protein at amino acid 1488 of 2843 (UniProt.org). L1488* has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L1488Ffs*26 frameshift loss of function - predicted APC L1488Ffs*26 indicates a shift in the reading frame starting at amino acid 1488 and terminating 26 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1488Ffs*26 has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L1488fs frameshift loss of function - predicted APC L1488fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1488 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1488fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L1488Yfs*19 frameshift loss of function - predicted APC L1488Yfs*19 indicates a shift in the reading frame starting at amino acid 1443 and terminating 30 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P1443Lfs*30 has not been characterized, however, due to the effects of other truncation mutations downstream of P1443 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L1489fs frameshift loss of function - predicted APC L1489fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1489 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1489fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1489 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L1509Efs*4 frameshift loss of function - predicted APC L1509Efs*4 indicates a shift in the reading frame starting at amino acid 1509 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1509Efs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of L1509 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L1564* nonsense loss of function - predicted APC L1564* results in a premature truncation of the Apc protein at amino acid 1564 of 2843 (UniProt.org). L1564* has not been characterized however, due to the effects of other truncation mutations downstream of L1564 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC L2253I missense unknown APC L2253I does not lie within any known functional domains of the Apc protein (UniProt.org). L2253I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC L2401P missense unknown APC L2401P does not lie within any known functional domains of the Apc protein (UniProt.org). L2401P has been identified in sequencing studies (PMID: 28539465), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC L508F missense unknown APC L508F lies within ARM repeat 2 of the Apc protein (UniProt.org). L508F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC L665* nonsense loss of function - predicted APC L665* results in a premature truncation of the Apc protein at amino acid 665 of 2843 of the Apc protein (UniProt.org). L665* has not been characterized, however, due to the effects of other truncation mutations downstream of L665 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L684* nonsense loss of function - predicted APC E684* results in a premature truncation of the Apc protein at amino acid 684 of 2843 (UniProt.org). E684* has not been characterized, however, due to the effects of other truncation mutations downstream of E684 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L795Sfs*25 frameshift loss of function - predicted APC L795Sfs*25 indicates a shift in the reading frame starting at amino acid 795 and terminating 25 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L795Sfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of L795 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC L852* nonsense loss of function - predicted APC L852* results in a premature truncation of the Apc protein at amino acid 852 of 2843 (UniProt.org). L852* has not been characterized, however, due to the effects of other truncation mutations downstream of L852 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC M1431fs frameshift loss of function - predicted APC M1431fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1431 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). M1431fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1431 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC M1525Lfs*39 frameshift loss of function - predicted APC M1525Lfs*39 indicates a shift in the reading frame starting at amino acid 1525 and terminating 39 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). M1525Lfs*39 has not been characterized, however, due to the effects of other truncation mutations downstream of M1525 (PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC N1026S missense loss of function APC N1026S lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1026S confers a loss of function on Apc, as indicated by diminished binding to Ctnnb1 and moderate activation of target genes in cell culture (PMID: 18166348).
APC N1300fs frameshift loss of function - predicted APC N1300fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1300 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1300fs has not been characterized, however, due to the effects of other truncation mutations downstream of N1300 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC N1455fs frameshift loss of function - predicted APC N1455fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1455 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1455fs has not been characterized, however, due to the effects of other truncation mutations downstream of N1455 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC N1455Ifs*18 frameshift loss of function - predicted APC N1455Ifs*18 indicates a shift in the reading frame starting at amino acid 1455 and terminating 18 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). N1455Ifs*18 has not been characterized, however, due to the effects of other truncation mutations downstream of N1455 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC N1819fs frameshift unknown APC N1819fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1819 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1819fs has been identified in the scientific literature (PMID: 28179481), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC N741fs frameshift loss of function - predicted APC N741fs results in a change in the amino acid sequence of the Apc protein beginning at aa 741 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N741fs has not been characterized, however, due to the effects of other truncation mutations downstream of N741 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC N813S missense no effect - predicted APC N813S does not lie within any known functional domains of the Apc protein (UniProt.org). N813S results in Axin2 signaling and Tcf/Lef transcriptional activity similar to wild-type Apc in cultured cells (PMID: 15133491), and therefore, is predicted to have no effect on Apc protein function.
APC N869fs frameshift loss of function - predicted APC N869fs results in a change in the amino acid sequence of the Apc protein beginning at aa 869 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N869fs has not been characterized, however, due to the effects of other truncation mutations downstream of N869 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1076L missense unknown APC P1076L lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). P1076L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC P1319fs frameshift loss of function - predicted APC P1319fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1319 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1319fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1319 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1361fs frameshift loss of function - predicted APC P1361fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1361 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1361fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1361 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1372fs frameshift loss of function - predicted APC P1372fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1372 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1372fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1372 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1373fs frameshift loss of function - predicted APC P1373fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1373 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1373fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1373 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1439fs frameshift loss of function - predicted APC P1439fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1439 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1439fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1439 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1440fs frameshift loss of function - predicted APC P1440fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1440 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1440fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1440 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1443fs frameshift loss of function - predicted APC P1443fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1443 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1443fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1443 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1443Lfs*30 frameshift loss of function - predicted APC P1443Lfs*30 indicates a shift in the reading frame starting at amino acid 1443 and terminating 30 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P1443Lfs*30 has not been characterized, however, due to the effects of other truncation mutations downstream of P1443 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1453fs frameshift loss of function - predicted APC P1453fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1453 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1453fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1453 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1458fs frameshift loss of function - predicted APC P1458fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1458 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1458fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1458 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1483fs frameshift loss of function - predicted APC P1483fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1483 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1483fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1483 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P1497fs frameshift loss of function - predicted APC P1497fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1497 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1497fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1497 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC P950Afs*13 frameshift loss of function - predicted APC P950Afs*13 indicates a shift in the reading frame starting at amino acid 950 and terminating 13 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P950Afs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of P950 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1067* nonsense loss of function - predicted APC Q1067* results in a premature truncation of the Apc protein at amino acid 1067 of 2843 (UniProt.org). Q1067* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1067 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1096* nonsense loss of function - predicted APC Q1096* results in a premature truncation of the Apc protein at amino acid 1096 of 2843 (UniProt.org). Q1096* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1096 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1096R missense unknown APC Q1096R lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). Q1096R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC Q1127* nonsense loss of function - predicted APC Q1127* results in a premature truncation of the Apc protein at amino acid 1127 of 2843 (UniProt.org). Q1127* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1127 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1131* nonsense loss of function - predicted APC Q1131* results in a premature truncation of the Apc protein at amino acid 1131 of 2843 (UniProt.org). Q1131* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1131 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1291* nonsense loss of function - predicted APC Q1291* results in a premature truncation of the Apc protein at amino acid 1291 of 2843 (UniProt.org). Q1291* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1291 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1294* nonsense loss of function - predicted APC Q1294* results in a premature truncation of the Apc protein at amino acid 1294 of 2843 (UniProt.org). Q1294* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1294 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1294fs frameshift loss of function - predicted APC Q1294fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1294 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Q1294fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1294 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1303* nonsense loss of function - predicted APC Q1303* results in a premature truncation of the Apc protein at amino acid 1303 of 2843 (UniProt.org). Q1303* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1303 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1303fs frameshift loss of function - predicted APC Q1303fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1303 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Q1303fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1303 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1338* nonsense loss of function - predicted APC Q1338* results in a premature truncation of the Apc protein at amino acid 1338 of 2843 (UniProt.org). Q1338* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1338 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1367* nonsense loss of function - predicted APC Q1367* results in a premature truncation of the Apc protein at amino acid 1367 of 2843 (UniProt.org). Q1367* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1367 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1378* nonsense loss of function - predicted APC Q1378* results in a premature truncation of the Apc protein at amino acid 1378 of 2843 (UniProt.org). Q1378* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1378 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1378fs frameshift loss of function - predicted APC Q1378fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1378 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). APC Q1378fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1378 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1406* nonsense loss of function - predicted APC Q1406* results in a premature truncation of the Apc protein at amino acid 1406 of 2843 (UniProt.org). Q1406* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1406 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1429* nonsense loss of function - predicted APC Q1429* results in a premature truncation of the Apc protein at amino acid 1429 of 2843 (UniProt.org). Q1429* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1429 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1429fs frameshift loss of function - predicted APC Q1429fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1429 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Q1429fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1429 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1444* nonsense loss of function - predicted APC Q1444* results in a premature truncation of the Apc protein at amino acid 1444 of 2843 (UniProt.org). Q1444* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1444 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1447* nonsense loss of function - predicted APC Q1447* results in a premature truncation of the Apc protein at aa 1447 of 2843 (UniProt.org). Q1447* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1447 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1469* nonsense loss of function - predicted APC Q1469* results in a premature truncation of the Apc protein at amino acid 1469 of 2843 (UniProt.org). Q1469* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1469 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1480* nonsense loss of function - predicted APC Q1480* results in a premature truncation of the Apc protein at amino acid 1480 of 2843 (UniProt.org). Q1480* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1480 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q1517* nonsense loss of function - predicted APC Q1517* results in a premature truncation of the Apc protein at amino acid 1517 of 2843 (UniProt.org). Q1517* results in reduced suppression of beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function.
APC Q1916* nonsense unknown APC Q1916* results in a premature truncation of the Apc protein at amino acid 1916 of 2843 (UniProt.org). Q1916* has been identified in the scientific literature (PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC Q1930Nfs*40 frameshift unknown APC Q1930Nfs*40 indicates a shift in the reading frame starting at amino acid 1930 and terminating 40 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). Q1930Nfs*40 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC Q203E missense unknown APC Q203E lies within a coiled-coil domain of the Apc protein (UniProt.org). Q203E has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2022).
APC Q2372* nonsense unknown APC Q2372* results in a premature truncation of the Apc protein at amino acid 2372 of 2843 (UniProt.org). Q2372* has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC Q424* nonsense loss of function - predicted APC Q424* results in a premature truncation of the Apc protein at amino acid 424 of 2843 (UniProt.org). Q424* has not been characterized, however, due to the effects of other truncation mutations downstream of Q424 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Q886* nonsense loss of function - predicted APC Q886* results in a premature truncation of the Apc protein at amino acid 886 of 2843 (UniProt.org). Q886* has not been characterized, however, due to the effects of other truncation mutations downstream of Q886 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R106C missense unknown APC R106C does not lie within any known functional domains of the Apc protein (UniProt.org). R106C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R1114* nonsense loss of function - predicted APC R1114* results in a premature truncation of the Apc protein at amino acid 1114 of 2843 (UniProt.org). R1114* has not been characterized, however, due to the effects of other truncation mutations downstream of R1114 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R1171H missense unknown APC R1171H lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). R1171H has been identified in sequencing studies (PMID: 1338691, PMID: 25886620), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R1314fs frameshift loss of function - predicted APC R1314fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1314 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1314fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1314 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R1348fs frameshift loss of function - predicted APC R1348fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1348 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1348fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1348 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R1399Ffs*9 frameshift loss of function - predicted APC R1399Ffs*9 indicates a shift in the reading frame starting at amino acid 1399 and terminating 9 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). R1399Ffs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of R1399 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R1435* nonsense loss of function - predicted APC R1435* results in a premature truncation of the Apc protein at amino acid 1435 of 2843 (UniProt.org). R1435* has not been characterized, however, due to the effects of other truncation mutations downstream of R1435 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R1435fs frameshift loss of function - predicted APC R1435fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1435 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1435fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1435 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R1450* nonsense loss of function - predicted APC R1450* results in a premature truncation of the Apc protein at amino acid 1450 of 2843 (UniProt.org). R1450* results in reduced suppression of beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function.
APC R213* nonsense loss of function - predicted APC R213* results in a premature truncation of the Apc protein at amino acid 213 of 2843 (UniProt.org). R213* has not been characterized, however, due to the effects of other truncation mutations downstream of R213 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R216* nonsense loss of function - predicted APC R216* results in a premature truncation of the Apc protein at amino acid 216 of 2843 (UniProt.org). R216* has not been characterized, however, due to the effects of other truncation mutations downstream of R216 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R2204* nonsense unknown APC R2204* results in a premature truncation of the Apc protein at amino acid 2204 of 2843 (UniProt.org). R2204* has been identified in sequencing studies (PMID: 26681737, PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R2237* nonsense unknown APC R2237* results in a premature truncation of the Apc protein at amino acid 2237 of 2843 (UniProt.org). R2237* has been identified in the scientific literature (PMID: 31175091), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R230C missense unknown APC R230C lies within a coiled-coil domain of the Apc protein (UniProt.org). R230C has been identified in sequencing studies (PMID: 26343386, PMID: 27149842, PMID: 22185227), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R232* nonsense loss of function - predicted APC R232* results in a premature truncation of the Apc protein at amino acid 232 of 2843 (UniProt.org). R232* has not been characterized, however, due to the effects of other truncation mutations downstream of R232 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R2525C missense unknown APC R2525C does not lie within any known functional domains of the Apc protein (UniProt.org). R2525C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R2673G missense unknown APC R2673G does not lie within any known functional domains of the Apc protein (UniProt.org). R2673G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R2714C missense unknown APC R2714C does not lie within any known functional domains of the Apc protein (UniProt.org). R2714C has been identified in sequencing studies (PMID: 20579941, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R283* nonsense loss of function - predicted APC R283* results in a premature truncation of the Apc protein at amino acid 283 of 2843 (UniProt.org). R283* has not been characterized, however, due to the effects of other truncation mutations downstream of R283 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R283Q missense unknown APC R283Q does not lie within any known functional domains of the Apc protein (Uniprot.org). R283Q has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R302* nonsense loss of function - predicted APC R302* results in a premature truncation of the Apc protein at amino acid 302 of 2843 (UniProt.org). R302* has not been characterized, however, due to the effects of other truncation mutations downstream of R302 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R374W missense unknown APC R374W does not lie within any known functional domains of the Apc protein (UniProt.org). R374W has been identified in sequencing studies (PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R405* nonsense loss of function - predicted APC R405* results in a premature truncation of the Apc protein at amino acid 405 of 2843 (UniProt.org). R405* has not been characterized, however, due to the effects of other truncation mutations downstream of R405 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R499* nonsense loss of function - predicted APC R499* results in a premature truncation of the Apc protein at amino acid 499 of 2843 (UniProt.org). R499* has not been characterized, however, due to the effects of other truncation mutations downstream of R499 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R554* nonsense loss of function - predicted APC R554* results in a premature truncation of the Apc protein at amino acid 554 of 2843 (UniProt.org). R554* has not been characterized, however, due to the effects of other truncation mutations downstream of R554 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R564* nonsense loss of function - predicted APC R564* results in a premature truncation of the Apc protein at amino acid 564 of 2843 (UniProt.org). R564* has not been characterized, however, due to the effects of other truncation mutations downstream of R564 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R640G missense loss of function - predicted APC R640G lies within ARM repeat 5 of the Apc protein (UniProt.org). R640G has not been biochemically characterized, however, the nucleotide change results in exon 14 skipping and the production of a truncated Apc protein (PMID: 19111562), and therefore, is predicted to result in a loss of Apc protein function.
APC R653K missense unknown APC R653K lies within ARM repeat 5 of the Apc protein (UniProt.org). R653K has been identified in sequencing studies (PMID: 28179590, PMID: 18199528), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R805* nonsense loss of function - predicted APC R805* results in a premature truncation of the Apc protein at amino acid 805 of 2843 (UniProt.org). R805* is transforming in cell culture (PMID: 28769798), and due to the effects of other truncation mutations downstream of R805 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R805Q missense unknown APC R805Q does not lie within any known functional domains of the Apc protein (UniProt.org). R805Q has been identified in sequencing studies (PMID: 31320401), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R876* nonsense loss of function - predicted APC R876* results in a premature truncation of the Apc protein at amino acid 876 of 2843 (UniProt.org). R876* has not been characterized, however, due to the effects of other truncation mutations downstream of R876 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC R876Q missense unknown APC R876Q does not lie within any known functional domains of the Apc protein (UniProt.org). R876Q has been identified in sequencing studies (PMID: 22895193, PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R99W missense unknown APC R99W does not lie within any known functional domains of the Apc protein (UniProt.org). R99W has been identified in sequencing studies (PMID: 34646395, PMID: 36013219), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S1197* nonsense loss of function - predicted APC S1197* results in a premature truncation of the Apc protein at amino acid 1197 of 2843 (UniProt.org). S1197* has not been characterized, however, due to the effects of other truncation mutations downstream of S1197 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1215* nonsense loss of function - predicted APC S1215* results in a premature truncation of the Apc protein at amino acid 1215 of 2843 (UniProt.org). S1215* has not been characterized, however, due to the effects of other truncation mutations downstream of S1215 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1278* nonsense loss of function - predicted APC S1278* results in a premature truncation of the Apc protein at amino acid 1278 of 2843 (UniProt.org). S1278* has not been characterized, however, due to the effects of other truncation mutations downstream of S1278 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S130G missense no effect - predicted APC S130G lies within a coiled-coil domain of the Apc protein (UniProt.org). S130G does not result in increased Wnt signaling by Apc in cell culture (PMID: 15133491), and therefore, is predicted to have no effect on Apc protein function.
APC S1315* nonsense loss of function - predicted APC S1315* results in a premature truncation of the Apc protein at amino acid 1315 of 2843 (UniProt.org). S1315* has not been characterized, however, due to the effects of other truncation mutations downstream of S1315 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1315fs frameshift loss of function - predicted APC S1315fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1315 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1315fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1315 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1344* nonsense loss of function - predicted APC S1344* results in a premature truncation of the Apc protein at amino acid 1344 of 2843 (UniProt.org). S1344* has not been characterized, however, due to the effects of other truncation mutations downstream of S1344 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1346* nonsense loss of function - predicted APC S1346* results in a premature truncation of the Apc protein at amino acid 1346 of 2843 (UniProt.org). S1346* has not been characterized, however, due to the effects of other truncation mutations downstream of S1346 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1355fs frameshift loss of function - predicted APC S1355fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1355 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1355fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1355 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1356* nonsense loss of function - predicted APC S1356* results in a premature truncation of the Apc protein at amino acid 1356 of 2843 (UniProt.org). S1356* has not been characterized, however, due to the effects of other truncation mutations downstream of S1356 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1356fs frameshift loss of function - predicted APC S1356fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1356 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1356fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1356 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1364fs frameshift loss of function - predicted APC S1364fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1364 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1364fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1364 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1400* nonsense loss of function - predicted APC S1400* results in a premature truncation of the Apc protein at amino acid 1400 of 2843 (UniProt.org). S1400* has not been characterized, however, due to the effects of other truncation mutations downstream of S1400 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1411fs frameshift loss of function - predicted APC S1411fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1411 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1411fs has not been characterized, however, due to the effects of truncation mutations downstream of S1411 (PMID: 10346819, PMID: 18199528), is predicted to result in a loss in Apc protein function.
APC S1436fs frameshift loss of function - predicted APC S1436fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1436 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1436fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1436 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1465fs frameshift loss of function - predicted APC S1465fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1465 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1465fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1465 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1465Wfs*3 frameshift loss of function - predicted APC S1465Wfs*3 indicates a shift in the reading frame starting at amino acid 1465 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S1465Wfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of S1465 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S1495fs frameshift loss of function - predicted APC S1495fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1495 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1495fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1495 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S2497L missense unknown APC S2497L does not lie within any known functional domains of the Apc protein (UniProt.org). S2497L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S2685G missense unknown APC S2685G does not lie within any known functional domains of the Apc protein (UniProt.org). S2685G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S31fs frameshift loss of function - predicted APC S31fs results in a change in the amino acid sequence of the Apc protein beginning at aa 31 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S31fs has not been characterized, however, due to the effects of other truncation mutations downstream of S31 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S320* nonsense loss of function - predicted APC S320* results in a premature truncation of the Apc protein at amino acid 320 of 2843 (UniProt.org). S320* has not been characterized, however, due to the effects of other truncation mutations downstream of S320 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S590N missense unknown APC S590N lies within ARM repeat 3 of the Apc protein (UniProt.org). S590N has been identified in sequencing studies (PMID: 28002797), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S811* nonsense loss of function - predicted APC S811* results in a premature truncation of the Apc protein at amino acid 811 of 2843 (UniProt.org). S811* results in loss of the 20-amino acid repeats of Apc involved in degradation of Beta-catenin and leads to TCF/LEF activity in culture (PMID: 28179481), and therefore, is predicted to result in a loss of Apc protein function.
APC S843Lfs*17 frameshift loss of function - predicted APC S843Lfs*17 indicates a shift in the reading frame starting at amino acid 843 and terminating 17 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S843Lfs*17 has not been characterized, however, due to the effects of other truncation mutations downstream of S843 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC S940L missense unknown APC S940L does not lie within any known functional domains of the Apc protein (UniProt.org). S940L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC T1301fs frameshift loss of function - predicted APC T1301fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1301 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1301fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1301 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T1301Pfs*4 frameshift loss of function - predicted APC T1301Pfs*4 indicates a shift in the reading frame starting at amino acid 1301 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1301Pfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of T1301 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T1301S missense unknown APC T1301S lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). T1301S has been identified in sequencing studies (PMID: 8118796), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC T1438fs frameshift loss of function - predicted APC T1438fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1438 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1438fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1438 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T1445fs frameshift loss of function - predicted APC T1445fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1445 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1445fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1445 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T1459fs frameshift loss of function - predicted APC T1459fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1459 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1459fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1459 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T1487fs frameshift loss of function - predicted APC T1487fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1487 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1487fs has not been characterized, however, due to the effects of Apc truncation mutations downstream of T1487 (PMID: 10346819, PMID: 18199528), T1487fs is predicted to result in a loss in Apc protein function.
APC T1493fs frameshift loss of function - predicted APC T1493fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1493 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1493fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1493 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T1496fs frameshift loss of function - predicted APC T1496fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1496 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1496fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1496 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T1556fs frameshift loss of function - predicted APC T1556fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1556 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1556fs has not been characterized however, due to the effects of other truncation mutations downstream of T1556 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC T1556Nfs*3 frameshift loss of function - predicted APC T1556Nfs*3 indicates a shift in the reading frame starting at amino acid 1556 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1556Nfs*3 has not been characterized however, due to the effects of other truncation mutations downstream of T1556 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
APC T518A missense unknown APC T518A lies within ARM repeat 2 of the Apc protein (UniProt.org). T518A has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC T621Lfs*9 frameshift loss of function - predicted APC T621Lfs*9 indicates a shift in the reading frame starting at amino acid 621 and terminating 9 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T621Lfs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of T621 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC T683P missense unknown APC T683P lies within ARM repeat 5 of the Apc protein (UniProt.org). T683P has been identified in sequencing studies (PMID: 29990497), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC V1377fs frameshift loss of function - predicted APC V1377fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1377 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). V1377fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1377 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC V2112I missense unknown APC V2112I does not lie within any known functional domains of the Apc protein (UniProt.org). V2112I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2022).
APC W421* nonsense loss of function - predicted APC W421* results in a premature truncation of the Apc protein at amino acid 421 of 2843 (UniProt.org). W421* has not been characterized, however, due to the effects of other truncation mutations downstream of W421 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC W553* nonsense loss of function - predicted APC W553* results in a premature truncation of the Apc protein at amino acid 553 of 2843 (UniProt.org). W553* has not been characterized, however, due to the effects of other truncation mutations downstream of W553 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC W685R missense unknown APC W685R lies within ARM repeat 6 of the Apc protein (UniProt.org). W685R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC Y1376* nonsense loss of function - predicted APC Y1376* results in a premature truncation of the Apc protein at amino acid 1376 of 2843 (UniProt.org). Y1376* has not been characterized, however, due to the effects of other truncation mutations downstream of Y1376 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Y1376fs frameshift loss of function - predicted APC Y1376fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1376 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Y1376fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y1376 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Y158H missense unknown APC Y158H lies within a coiled-coil domain of the Apc protein (UniProt.org). Y158H has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC Y737* nonsense loss of function - predicted APC Y737* results in a premature truncation of the Apc protein at amino acid 737 of 2843 (UniProt.org). Y737* has not been characterized, however, due to the effects of other truncation mutations downstream of Y737 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Y935* nonsense loss of function - predicted APC Y935* results in a premature truncation of the Apc protein at amino acid 935 of 2843 (UniProt.org). Y935* has not been characterized, however, due to the effects of other truncation mutations downstream of Y935 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
APC Y935fs frameshift loss of function - predicted APC Y935fs results in a change in the amino acid sequence of the Apc protein beginning at aa 935 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Y935fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y935 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
ATM A1127V missense unknown ATM A1127V does not lie within any known functional domains of the Atm protein (UniProt.org). A1127V has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A1309T missense unknown ATM A1309T does not lie within any known functional domains of the Atm protein (UniProt.org). A1309T has been identified in the scientific literature (PMID: 24886963, PMID: 31552911), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM A1505V missense unknown ATM A1505V does not lie within any known functional domains of the Atm protein (UniProt.org). A1505V has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A1742P missense loss of function - predicted ATM A1742P does not lie within any known functional domains of the Atm protein (UniProt.org). A1742P results in defective kinase activity (PMID: 16014569), and is therefore predicted to lead to a loss of Atm protein function.
ATM A1812P missense unknown ATM A1812P does not lie within any known functional domains of the Atm protein (UniProt.org). A1812P has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A1950T missense unknown ATM A1950T lies within the FAT domain of the Atm protein (UniProt.org). A1950T has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A2062V missense loss of function - predicted ATM A2062V lies within the FAT domain of the Atm protein (UniProt.org). A2062V results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
ATM A2067D missense loss of function ATM A2067D lies within the FAT domain of the Atm protein (UniProt.org). A2067D confers a loss of function to Atm, resulting in reduced Atm protein expression and decreased Atm kinase activity in cell culture (PMID: 25077176).
ATM A220V missense no effect - predicted ATM A220V does not lie within any known functional domains of the Atm protein (UniProt.org). A220V restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
ATM A2274T missense no effect - predicted ATM A2274T lies within the FAT domain of the Atm protein (UniProt.org). A2274T demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 19431188), kinase activity, radiaosensitivity, and radiation-induced chromosome aberrations similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
ATM A2308T missense unknown ATM A2308T lies within the FAT domain of the Atm protein (UniProt.org). A2308T has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A2420G missense unknown ATM A2420G lies within the FAT domain of the Atm protein (UniProt.org). A2420G has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM A2524P missense unknown ATM A2524P lies within the FAT domain of the Atm protein (UniProt.org). A2524P has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM A2602fs frameshift loss of function - predicted ATM A2602fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2602 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A2602fs has not been characterized however, based on the effects of other truncation mutations downstream of A2602 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM A2622T missense unknown ATM A2622T does not lie within any known functional domains of the Atm protein (UniProt.org). A2622T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A2843V missense unknown ATM A2843V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). A2843V has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM A3006T missense unknown ATM A3006T does not lie within any known functional domains of the Atm protein (UniProt.org). A3006T has been identified in sequencing studies (PMID: 27147599, PMID: 23415222, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A302fs frameshift loss of function ATM A302fs results in a change in the amino acid sequence of the Atm protein beginning at aa 302 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A302fs results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
ATM A59S missense loss of function - predicted ATM A59S does not lie within any known functional domains of the Atm protein (UniProt.org). A59S results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM C2464R missense no effect - predicted ATM C2464R lies within the FAT domain of the Atm protein (UniProt.org). C2464R results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
ATM C2488Y missense loss of function - predicted ATM C2488Y lies within the FAT domain of the Atm protein (UniProt.org). C2488Y results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
ATM C353fs frameshift loss of function - predicted ATM C353fs results in a change in the amino acid sequence of the Atm protein beginning at aa 353 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C353fs is predicted to lead to a loss of Atm protein function.
ATM C430S missense unknown ATM C430S does not lie within any known functional domains of the Atm protein (UniProt.org). C430S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM C532Y missense unknown ATM C532Y does not lie within any known functional domains of the Atm protein (UniProt.org). C532Y has been identified in the scientific literature (PMID: 11756177), but has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM C540* nonsense loss of function - predicted ATM C540* results in a premature truncation of the Atm protein at amino acid 540 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C540* is predicted to result in a loss of Atm protein function.
ATM C730Y missense unknown ATM C730Y does not lie within any known functional domains of the Atm protein (UniProt.org). C730Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D126E missense unknown ATM D126E does not lie within any known functional domains of the Atm protein (UniProt.org). D126E has been identified in the scientific literature (PMID: 11443540, PMID: 16520463, PMID: 24793135), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D1285G missense unknown ATM D1285G does not lie within any known functional domains of the Atm protein (UniProt.org). D1285G has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM D1682H missense loss of function - predicted ATM D1682H does not lie within any known functional domains of the Atm protein (UniProt.org). D1682H results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
ATM D1682Y missense loss of function - predicted ATM D1682Y does not lie within any known functional domains of the Atm protein (UniProt.org). D1682Y is predicted to confer a loss of function to the Atm protein, as demonstrated by defective kinase activity (PMID: 16014569).
ATM D1853V missense no effect - predicted ATM D1853V does not lie within any known functional domains of the Atm protein (UniProt.org). D1853V demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM D1963N missense unknown ATM D1963N lies within the FAT domain of the Atm protein (UniProt.org). D1963N has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2320N missense unknown ATM D2320N lies within the FAT domain of the Atm protein (UniProt.org). D2320N has been identified in sequencing studies (PMID: 26314984), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM D2395V missense unknown ATM D2395V lies within the FAT domain of the Atm protein (UniProt.org). D2395V has been identified in sequencing studies (PMID: 22952040), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM D2448A missense unknown ATM D2448A lies within the FAT domain of the Atm protein (UniProt.org). D2448A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2448G missense unknown ATM D2448G lies within the FAT domain of the Atm protein (UniProt.org). D2448G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM D2625_A2626delinsEP indel unknown ATM D2625_A2626delinsEP results in a deletion of an aspartic acid (D) and an alanine (A) from aa 2625 to aa 2626 of the Atm protein, combined with the insertion of a glutamic acid (E) and a proline (P) at the same site (UniProt.org). D2625_A2626delinsEP has been identified in the scientific literature (PMID: 31963394), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM D2708N missense loss of function ATM D2708N does not lie within any known functional domains of the Atm protein (UniProt.org). D2708N results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM D2720H missense unknown ATM D2720H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2720N missense unknown ATM D2720N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720N has been identified in sequencing studies (PMID: 27147599, PMID: 33054084), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2022).
ATM D2721N missense unknown ATM D2721N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721N has been identified in sequencing studies (PMID: 30836094, PMID: 24069199, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2721Y missense unknown ATM D2721Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721Y has been identified in sequencing studies (PMID: 26675346, PMID: 10939806), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2725G missense unknown ATM D2725G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725G has been identified in the scientific literature (PMID: 29906251), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2725V missense unknown ATM D2725V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725V has been identified in sequencing studies (PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2870Y missense unknown ATM D2870Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2870Y has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D351Y missense unknown ATM D351Y does not lie within any known functional domains of the Atm protein (UniProt.org). D351Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D983N missense unknown ATM D983N does not lie within any known functional domains of the Atm protein (UniProt.org). D983N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM E1072* nonsense loss of function - predicted ATM E1072* results in a premature truncation of the Atm protein at amino acid 1072 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1072* is predicted to result in a loss of Atm protein function.
ATM E1666* nonsense loss of function - predicted ATM E1666* results in a premature truncation of the Atm protein at amino acid 1666 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1666* is predicted to lead to a loss of Atm protein function.
ATM E1959K missense unknown ATM E1959K lies within the FAT domain of the Atm protein (UniProt.org). E1959K has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E1978* nonsense loss of function - predicted ATM E1978* results in a premature truncation of the Atm protein at amino acid 1978 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1978* is predicted to lead to a loss of Atm protein function.
ATM E2039* nonsense loss of function - predicted ATM E2039* results in a premature truncation of the Atm protein at amino acid 2039 of 3056 (UniProt.org). E2039* has not been characterized, however, due to the effects of other truncation mutations downstream of E2039 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM E2039K missense loss of function - predicted ATM E2039K lies within the FAT domain of the Atm protein (UniProt.org). E2039K results in decreased phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
ATM E2164G missense unknown ATM E2164G lies within the FAT domain of the Atm protein (UniProt.org). E2164G has been identified in sequencing studies (PMID: 30503610, PMID: 26878173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E2187* nonsense loss of function ATM E2187* results in a premature truncation of the Atm protein at amino acid 2187 of 3056 (UniProt.org). E2187* results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
ATM E2272* nonsense loss of function - predicted ATM E2272* results in a premature truncation of the Atm protein at amino acid E2272 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E2272* is predicted to lead to a loss of Atm protein function.
ATM E2294G missense unknown ATM E2294G lies within the FAT domain of the Atm protein (UniProt.org). E2294G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM E2304Gfs*69 frameshift loss of function - predicted ATM E2304Gfs*69 indicates a shift in the reading frame starting at amino acid 2304 and terminating 69 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss most known functional domains (UniProt.org), E2304Gfs*69 is predicted to lead to a loss of Atm protein function.
ATM E2668G missense no effect - predicted ATM E2668G does not lie within any known functional domains of the Atm protein (UniProt.org). E2668G demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function.
ATM E2904K missense unknown ATM E2904K lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). E2904K has been identified in sequencing studies (PMID: 28667006, PMID: 29360550), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E2977Rfs*2 frameshift loss of function - predicted ATM E2977Rfs*2 indicates a shift in the reading frame starting at amino acid 2977 and terminating two residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of the FATC domain (PMID: 16603769), E2977Rfs*2 is predicted to lead to a loss of Atm protein function.
ATM E343* nonsense loss of function - predicted ATM E343* results in a premature truncation of the Atm protein at amino acid 343 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E343* is predicted to lead to a loss of Atm protein function.
ATM E390* nonsense loss of function - predicted ATM E390* results in a premature truncation of the Atm protein at amino acid 390 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E390* is predicted to lead to a loss of Atm protein function.
ATM E518fs frameshift loss of function - predicted ATM E518fs results in a change in the amino acid sequence of the Atm protein beginning at aa 518 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E518fs is predicted to lead to a loss of Atm protein function.
ATM E522* nonsense loss of function - predicted ATM E522* results in a premature truncation of the Atm protein at amino acid 522 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E522* is predicted to lead to a loss of Atm protein function.
ATM E848Q missense unknown ATM E848Q does not lie within any known functional domains of the Atm protein (UniProt.org). E848Q has been identified in the scientific literature (PMID: 27602502), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E871K missense unknown ATM E871K does not lie within any known functional domains of the Atm protein (UniProt.org). E871K has been identified in sequencing studies (PMID: 30239046, PMID: 28487787), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F1025L missense loss of function - predicted ATM F1025L does not lie within any known functional domains of the Atm protein (UniProt.org). F1025L results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
ATM F1683V missense unknown ATM F1683V does not lie within any known functional domains of the Atm protein (UniProt.org). F1683V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F168L missense unknown ATM F168L does not lie within any known functional domains of the Atm protein (UniProt.org). F168L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F2140V missense unknown ATM F2140V lies within the FAT domain of the Atm protein (UniProt.org). F2140V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F2516C missense unknown ATM F2516C lies within the FAT domain of the Atm protein (UniProt.org). F2516C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM F2571Yfs*4 frameshift loss of function - predicted ATM F2571Yfs*4 indicates a shift in the reading frame starting at amino acid 2571 and terminating 4 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of the PI3K/PI4K and FATC domains (UniProt.org), F2571Yfs*4 is predicted to lead to a loss of Atm protein function.
ATM F2732V missense loss of function - predicted ATM F2732V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2732V results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
ATM F2827C missense loss of function ATM F2827C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2827C results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and failure to from foci in response to irradiation in culture (PMID: 19431188).
ATM F2839L missense unknown ATM F2839L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2839L has been identified in sequencing studies (PMID: 24951259, PMID: 25957691), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F570L missense unknown ATM F570L does not lie within any known functional domains of the Atm protein (UniProt.org). F570L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F582L missense unknown ATM F582L does not lie within any known functional domains of the Atm protein (UniProt.org). F582L has been identified in the scientific literature (PMID: 14695997, PMID: 16574953, PMID: 25625042), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F858L missense no effect - predicted ATM F858L does not lie within any known functional domains of the Atm protein (UniProt.org). F858L demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM F897I missense unknown ATM F897I does not lie within any known functional domains of the Atm protein (UniProt.org). F897I has been identified in sequencing studies (PMID: 28652578, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G1459R missense unknown ATM G1459R does not lie within any known functional domains of the Atm protein (UniProt.org). G1459R has been identified in sequencing studies (PMID: 26214590, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2023R missense unknown ATM G2023R lies within the FAT domain of the Atm protein (UniProt.org). G2023R has been identified in the scientific literature (PMID: 25625042, PMID: 12149228, PMID: 23091097), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2083* nonsense loss of function - predicted ATM G2083* results in a premature truncation of the Atm protein at amino acid 2083 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G2083* is predicted to lead to a loss of Atm protein function.
ATM G2287A missense no effect - predicted ATM G2287A lies within the FAT domain of the Atm protein (UniProt.org). G2287A results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
ATM G2694R missense unknown ATM G2694R does not lie within any known functional domains of the Atm protein (UniProt.org). G2694R has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2695A missense unknown ATM G2695A does not lie within any known functional domains of the Atm protein (UniProt.org). G2695A has been identified in sequencing studies (PMID: 23407552, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2695C missense unknown ATM G2695C does not lie within any known functional domains of the Atm protein (UniProt.org). G2695C has been identified in sequencing studies (PMID: 31164343, PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2695S missense unknown ATM G2695S does not lie within any known functional domains of the Atm protein (UniProt.org). G2695S has been identified in sequencing studies (PMID: 25885250, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM G2718_K2756del deletion loss of function ATM G2718_K2756del results in the deletion of 39 amino acids in the PI3K/PI4K domain of the Atm protein from amino acids 2718 to 2756 (UniProt.org). G2718_K2756del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM G2765S missense loss of function ATM G2765S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2765S results in decreased protein expression, loss of phosphorylation of Atm downstream targets, and defective G2/M checkpoint in response to irradiation in culture (PMID: 19431188).
ATM G2772R missense no effect - predicted ATM G2772R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2772R results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
ATM G2867R missense loss of function ATM G2867R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2867R confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
ATM G2891R missense unknown ATM G2891R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891R has been identified in sequencing studies (PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G514D missense unknown ATM G514D does not lie within any known functional domains of the Atm protein (UniProt.org). G514D has been identified in sequencing studies (PMID: 24728327, PMID: 11443540, PMID: 12473594), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM H2038D missense unknown ATM H2038D lies within the FAT domain of the Atm protein (UniProt.org). H2038D has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM H2038R missense unknown ATM H2038R lies within the FAT domain of the Atm protein (UniProt.org). H2038R has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM H2038Y missense loss of function - predicted ATM H2038Y lies within the FAT domain of the Atm protein (UniProt.org). H2038Y results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM H2554D missense loss of function ATM H2554D lies within the FAT domain of the Atm protein (UniProt.org). H2554D results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM H2872Q missense unknown ATM H2872Q lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872Q has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM H2872R missense unknown ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM I10fs frameshift loss of function - predicted ATM I10fs results in a change in the amino acid sequence of the Atm protein beginning at aa 10 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I10fs is predicted to lead to a loss of Atm protein function.
ATM I124V missense unknown ATM I124V does not lie within any known functional domains of the Atm protein (UniProt.org). I124V has been identified in sequencing studies (PMID: 12673804, PMID: 28076423), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM I1294Nfs*8 frameshift loss of function - predicted ATM I1294Nfs*8 indicates a shift in the reading frame starting at amino acid 1294 and terminating 8 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). I1294Nfs*8 has not been characterized, however, based on the effects of other truncation mutations downstream of I1294 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM I1581Nfs*5 frameshift loss of function - predicted ATM I1581Nfs*5 indicates a shift in the reading frame starting at amino acid 1581 and terminating 5 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I1581Nfs*5 is predicted to lead to a loss of Atm protein function.
ATM I1681V missense loss of function ATM I1681V does not lie within any known functional domains of the Atm protein (UniProt.org). I1681V confers a loss of function to the Atm protein as demonstrated by reduced Atm and Tp53 phosphorylation (PMID: 16014569).
ATM I1849fs frameshift loss of function - predicted ATM I1849fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1849 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I1849fs is predicted to lead to a loss of Atm protein function.
ATM I2629fs frameshift loss of function - predicted ATM I2629fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2629 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the PI3K/PI4K and FATC domains (UniProt.org), I2629fs is predicted to lead to a loss of Atm protein function.
ATM I2701Nfs*17 frameshift loss of function - predicted ATM I2701Nfs*17 indicates a shift in the reading frame starting at amino acid 2701 and terminating 17 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of the PI3K/PI4K and FATC domains (UniProt.org), I2701Nfs*17 is predicted to lead to a loss of Atm protein function.
ATM I2888L missense unknown ATM I2888L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888L has been identified in sequencing studies (PMID: 26487540), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM I2888M missense unknown ATM I2888M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888M has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM I2888T missense unknown ATM I2888T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888T has been identified in the scientific literature (PMID: 12697903, PMID: 23091097, PMID: 33975862), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM I323V missense unknown ATM I323V does not lie within any known functional domains of the Atm protein (UniProt.org). I323V has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM K1410* nonsense loss of function - predicted ATM K1410* results in a premature truncation of the Atm protein at amino acid 1410 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K1410* is predicted to lead to a loss of Atm protein function.
ATM K1807E missense loss of function ATM K1807E does not lie within any known functional domains of the Atm protein (UniProt.org). K1807E results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM K1964E missense unknown ATM K1964E lies within the FAT domain of the Atm protein (UniProt.org). K1964E has been identified in sequencing studies (PMID: 26675346, PMID: 12810666), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM K1992T missense no effect - predicted ATM K1992T lies within the FAT domain of the Atm protein (UniProt.org). K1992T demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM K224E missense no effect - predicted ATM K224E does not lie within any known functional domains of the Atm protein (UniProt.org). K224E demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM K2749I missense loss of function - predicted ATM K2749I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). K2749I results in partial inability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM K2756* nonsense loss of function - predicted ATM K2756* results in a premature truncation of the Atm protein at amino acid 2756 of 3056 (UniProt.org). Due to the loss of the FATC domain, R2756* is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM K2811fs frameshift loss of function - predicted ATM K2811fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2811 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the FATC domain, K2811fs is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM K293* nonsense loss of function ATM K293* results in a premature truncation of the Atm protein at amino acid 293 of 3056 (UniProt.org). K293* results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
ATM K3018Q missense unknown ATM K3018Q does not lie within any known functional domains of the Atm protein (UniProt.org). K3018Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM K3043R missense unknown ATM K3043R lies within the FATC domain of the Atm protein (UniProt.org). K3043R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM K468Efs*18 frameshift loss of function - predicted ATM K468Efs*18 indicates a shift in the reading frame starting at amino acid 468 and terminating 18 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K468Efs*18 is predicted to lead to a loss of Atm protein function.
ATM K468fs frameshift loss of function - predicted ATM K468fs results in a change in the amino acid sequence of the Atm protein beginning at 468 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K468fs is predicted to lead to a loss of Atm protein function.
ATM L100W missense unknown ATM L100W does not lie within any known functional domains of the Atm protein (UniProt.org). L100W has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1046R missense unknown ATM L1046R does not lie within any known functional domains of the Atm protein (UniProt.org). L1046R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1322I missense no effect - predicted ATM L1322I does not lie within any known functional domains of the Atm protein (UniProt.org). L1322I demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function.
ATM L1408F missense unknown ATM L1408F does not lie within any known functional domains of the Atm protein (UniProt.org). L1408F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1408I missense unknown ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 29107334, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1420F missense no effect - predicted ATM L1420F does not lie within any known functional domains of the Atm protein (UniProt.org). L1420F demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM L1439I missense unknown ATM L1439I does not lie within any known functional domains of the Atm protein (UniProt.org). L1439I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1449* nonsense loss of function - predicted ATM L1449* results in a premature truncation of the Atm protein at amino acid 1449 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1449* is predicted to lead to a loss of Atm protein function.
ATM L1465P missense loss of function ATM L1465P does not lie within any known functional domains of the Atm protein (UniProt.org). L1465P results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM L1675F missense unknown ATM L1675F does not lie within any known functional domains of the Atm protein (UniProt.org). L1675F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1874F missense loss of function - predicted ATM L1874F does not lie within any known functional domains of the Atm protein (UniProt.org). L1874F results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L1939V missense unknown ATM L1939V does not lie within any known functional domains of the Atm protein (UniProt.org). L1939V has been identified in sequencing studies (PMID: 20054297, PMID: 30814645), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1956H missense loss of function - predicted ATM L1956H lies within the FAT domain of the Atm protein (UniProt.org). L1956H results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L2077I missense unknown ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2307F missense unknown ATM L2307F lies within the FAT domain of the Atm protein (UniProt.org). L2307F has been identified in the scientific literature (PMID: 28652578, PMID: 25625042, PMID: 32393777), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2332P missense unknown ATM L2332P lies within the FAT domain of the Atm protein (UniProt.org). L2332P has been identified in the scientific literature (PMID: 25625042, PMID: 12673804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM L2338P missense loss of function ATM L2338P lies within the FAT domain of the Atm protein (UniProt.org). L2338P results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM L2427_R2428del deletion loss of function ATM L2427_R2428del results in the deletion of two amino acids in the FAT domain of the Atm protein from amino acids 2427 to 2428 (UniProt.org). L2427_R2428del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM L2427P missense loss of function ATM L2427P lies within the FAT domain of the Atm protein (UniProt.org). L2427P results in decreased Tp53 phosphorylation and failure to to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
ATM L2452P missense loss of function ATM L2452P lies within the FAT domain of the Atm protein (UniProt.org). L2452P results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM L2492R missense unknown ATM L2492R lies within the FAT domain of the Atm protein (UniProt.org). L2492R has been identified in sequencing studies (PMID: 29449575, PMID: 30181556, PMID: 33151258), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2561M missense unknown ATM L2561M lies within the FAT domain of the Atm protein (UniProt.org). L2561M has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L259I missense unknown ATM L259I does not lie within any known functional domains of the Atm protein (UniProt.org). L259I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2722M missense unknown ATM L2722M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2722M has been identified in sequencing studies (PMID: 27491810, PMID: 25326804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2780R missense unknown ATM L2780R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2780R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2877F missense unknown ATM L2877F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2877F has been identified in the scientific literature (PMID: 27206246), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2890V missense loss of function - predicted ATM L2890V lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). L2890V is predicted to confer a loss of function to the Atm protein, as demonstrated by defective Tp53 DNA damage response (PMID: 23585524).
ATM L2953Tfs*3 frameshift loss of function - predicted ATM L2953Tfs*3 indicates a shift in the reading frame starting at amino acid 2953 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of the FATC domain, L2953Tfs*3 is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM L2995I missense unknown ATM L2995I does not lie within any known functional domains of the Atm protein (UniProt.org). L2995I has been identified in sequencing studies (PMID: 27997549, PMID: 27363283), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L348_M349insYIV insertion unknown ATM L348_M349insYIV results in the insertion of three amino acids in the Atm protein between amino acids 348 and 349 (UniProt.org). L348_M349insYIV has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L546V missense no effect ATM L546V does not lie within any known functional domains of the Atm protein (UniProt.org). L546V demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
ATM L581V missense no effect - predicted ATM L581V does not lie within any known functional domains of the Atm protein (UniProt.org). L581V restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
ATM L694R missense unknown ATM L694R does not lie within any known functional domains of the Atm protein (UniProt.org). L694R has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM L804fs frameshift loss of function - predicted ATM L804fs results in a change in the amino acid sequence of the Atm protein beginning at 804 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L804fs is predicted to lead to a loss of Atm protein function.
ATM L822V missense unknown ATM L822V does not lie within any known functional domains of the Atm protein (UniProt.org). L822V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L942I missense unknown ATM L942I does not lie within any known functional domains of the Atm protein (UniProt.org). L942I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L991S missense unknown ATM L991S does not lie within any known functional domains of the Atm protein (UniProt.org). L991S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM M2405L missense unknown ATM M2405L lies within the FAT domain of the Atm protein (UniProt.org). M2405L has been identified in sequencing studies (PMID: 22952040), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM M2531T missense unknown ATM M2531T lies within the FAT domain of the Atm protein (UniProt.org). M2531T has been identified in sequencing studies (PMID: 27978560, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM M349K missense unknown ATM M349K does not lie within any known functional domains of the Atm protein (UniProt.org). M349K has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM N1356D missense unknown ATM N1356D does not lie within any known functional domains of the Atm protein (UniProt.org). N1356D has been identified in sequencing studies (PMID: 19781682, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N1650S missense unknown ATM N1650S does not lie within any known functional domains of the Atm protein (UniProt.org). N1650S results in impaired Atm phosphorylation of Tp53 and Chek2 in cultured cells (PMID: 12969974), but in another study restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, its effect on Atm protein function is unknown.
ATM N2326_K2363del deletion loss of function - predicted ATM N2326_K2363del results in the deletion of 38 amino acids in the FAT domain of the Atm protein from amino acids 2326 to 2363 (UniProt.org). N2326_K2363del results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
ATM N2603S missense unknown ATM N2603S does not lie within any known functional domains of the Atm protein (UniProt.org). N2603S has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N2875K missense unknown ATM N2875K lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). N2875K results in a loss of kinase activity with a co-occuring ATM D2870A (PMID: 9733515), but has not been individually characterized and therefore, its effect on Atm protein function is unknown.
ATM N2875S missense unknown ATM N2875S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875S has been identified in the scientific literature (PMID: 25232094, PMID: 30730459), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N2875T missense unknown ATM N2875T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875T has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N3033* nonsense loss of function ATM N3033* results in a premature truncation of the Atm protein at amino acid 3033 of 3056 (UniProt.org). N3033* results in a loss of binding to Tip60, and loss of DNA damage-induced Atm phosphorylation, acetylation, and kinase activity in cell culture (PMID: 16603769).
ATM N765Kfs*12 frameshift loss of function - predicted ATM N765Kfs*12 indicates a shift in the reading frame starting at amino acid 765 and terminating 12 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), N765Kfs*12 is predicted to lead to a loss of Atm protein function.
ATM N914S missense unknown ATM N914S does not lie within any known functional domains of the Atm protein (UniProt.org). N914S has been identified in sequencing studies (PMID: 29107334, PMID: 28652578), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P1054R missense no effect ATM P1054R does not lie within any known functional domains of the Atm protein (UniProt.org). P1054R demonstrates kinase activity equivalent to wild-type Atm, functional G2/M checkoiunt (PMID: 18573109, PMID: 19431188) and ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
ATM P1069fs frameshift loss of function - predicted ATM P1069fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1069 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P1069fs is predicted to lead to a loss of Atm protein function.
ATM P178S missense unknown ATM P178S does not lie within any known functional domains of the Atm protein (UniProt.org). P178S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2353H missense unknown ATM P2353H lies within the FAT domain of the Atm protein (UniProt.org). P2353H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2353T missense unknown ATM P2353T lies within the FAT domain of the Atm protein (UniProt.org). P2353T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2665T missense unknown ATM P2665T does not lie within any known functional domains of the Atm protein (UniProt.org). P2665T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2842L missense unknown ATM P2842L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2842L has been identified in sequencing studies (PMID: 24185509, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P292L missense loss of function ATM P292L does not lie within any known functional domains of the Atm protein (UniProt.org). P292L results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and impaired G2/M checkpoint in response to irradiation in culture (PMID: 19431188).
ATM P2974L missense loss of function ATM P2974L does not lie within any known functional domains of the Atm protein (UniProt.org). P2974L confers a loss of function on the Atm protein as demonstrated by reduced phosphorylation of Atm, Chk2, and Tp53, increased DNA damage, and reduced homologous recombination repair activity in culture (PMID: 31160347).
ATM P604S missense loss of function - predicted ATM P604S does not lie within any known functional domains of the Atm protein (UniProt.org). P604S results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM P631S missense unknown ATM P631S does not lie within any known functional domains of the Atm protein (UniProt.org). P631S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P80S missense unknown ATM P80S does not lie within any known functional domains of the Atm protein (UniProt.org). P80S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P960H missense loss of function - predicted ATM P960H does not lie within any known functional domains of the Atm protein (UniProt.org). P960H results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM Q1128R missense unknown ATM Q1128R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1128R has been identified in the scientific literature (PMID: 35031544, PMID: 35078817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q1171Tfs*8 frameshift loss of function - predicted ATM Q1171Tfs*8 indicates a shift in the reading frame starting at amino acid 1171 and terminating 8 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q1171Tfs*8 is predicted to lead to a loss of Atm protein function.
ATM Q1537R missense unknown ATM Q1537R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1537R has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q1579fs frameshift loss of function - predicted ATM Q1579fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1579 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q1579fs is predicted to lead to a loss of Atm protein function.
ATM Q1636Rfs*10 frameshift loss of function - predicted ATM Q1636Rfs*10 indicates a shift in the reading frame starting at amino acid 1636 and terminating 10 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q1636Rfs*10 is predicted to lead to a loss of Atm protein function.
ATM Q1906* nonsense loss of function - predicted ATM Q1906* results in a premature truncation of the Atm protein at amino acid 1906 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q1906* is predicted to lead to a loss of Atm protein function.
ATM Q1919P missense unknown ATM Q1919P does not lie within any known functional domains of the Atm protein (UniProt.org). Q1919P has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Q2066L missense unknown ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q2277* nonsense loss of function - predicted ATM Q2277* results in a premature truncation of the Atm protein at amino acid 2277 of 3056 (UniProt.org). Q2277* has not been characterized, however, based on the effects of other truncation mutations downstream of Q2277 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM Q2297* nonsense loss of function - predicted ATM Q2297* results in a premature truncation of the Atm protein at amino acid 2297 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q2297* is predicted to lead to a loss of Atm protein function.
ATM Q2397* nonsense loss of function - predicted ATM Q2397* results in a premature truncation of the Atm protein at amino acid 2397 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q2397* is predicted to lead to a loss of Atm protein function.
ATM Q2442P missense unknown ATM Q2442P lies within the FAT domain of the Atm protein (UniProt.org). Q2442P has been identified in sequencing studies (PMID: 26316624, PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q2729H missense unknown ATM Q2729H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2729H has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM Q2730P missense loss of function ATM Q2730P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2730P results in decreased protein expression, loss of phosphorylation of Atm and downstream targets, and failure to form foci in response to irradiation in culture (PMID: 19431188).
ATM Q2762R missense unknown ATM Q2762R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2762R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q2800* nonsense loss of function - predicted ATM Q2800* results in a premature truncation of the Atm protein at amino acid 2800 of 3056 (UniProt.org). Due to the loss of the FATC domain, Q2800* is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM Q2809P missense unknown ATM Q2809P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2809P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM Q2972* nonsense loss of function - predicted ATM Q2972* results in a premature truncation of the Atm protein at amino acid 2972 of 3056 (UniProt.org). Q2972* has not been characterized, however, due to the effects of other truncation mutations downstream of Q2972 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM Q3038* nonsense unknown ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* has not been characterized in the scientific literature, and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM Q628Pfs*7 frameshift loss of function - predicted ATM Q628Pfs*7 indicates a shift in the reading frame starting at amino acid 628 and terminating 7 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q628Pfs*7 is predicted to lead to a loss of Atm protein function.
ATM R1150I missense unknown ATM R1150I does not lie within any known functional domains of the Atm protein (UniProt.org). R1150I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R1466* nonsense loss of function - predicted ATM R1466* results in a premature truncation of the Atm protein at amino acid 1466 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1466* is predicted to lead to a loss of Atm protein function.
ATM R1466Q missense unknown ATM R1466Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1466Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R1575H missense no effect ATM R1575H does not lie within any known functional domains of the Atm protein (UniProt.org). R1575H demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
ATM R1618* nonsense loss of function - predicted ATM R1618* results in a premature truncation of the Atm protein at amino acid 1618 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1618* is predicted to lead to a loss of Atm protein function.
ATM R1730* nonsense loss of function - predicted ATM R1730* results in a premature truncation of the Atm protein at amino acid 1730 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1730* is predicted to lead to a loss of Atm protein function.
ATM R1730Q missense unknown ATM R1730Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1730Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R1882* nonsense loss of function - predicted ATM R1882* results in a premature truncation of the Atm protein at amino acid 1882 of 3056 (UniProt.org). R1882* has not been characterized, however, based on the effects of other truncation mutations downstream of R1882 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM R1918T missense unknown ATM R1918T does not lie within any known functional domains of the Atm protein (UniProt.org). R1918T has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R2034* nonsense loss of function - predicted ATM R2034* results in a premature truncation of the Atm protein at amino acid 2034 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R2034* is predicted to lead to a loss of Atm protein function.
ATM R2034P missense loss of function - predicted ATM R2034P lies within the FAT domain of the Atm protein (UniProt.org). R2034P results in a loss of Atm protein expression in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R2138Kfs*8 frameshift loss of function - predicted ATM R2138Kfs*8 indicates a shift in the reading frame starting at amino acid 2138 and terminating 8 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R2138Kfs*8 is predicted to lead to a loss of Atm protein function.
ATM R221I missense unknown ATM R221I does not lie within any known functional domains of the Atm protein (UniProt.org). R221I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R23Q missense unknown ATM R23Q does not lie within any known functional domains of the Atm protein (UniProt.org). R23Q has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R2443P missense unknown ATM R2443P lies within the FAT domain of the Atm protein (UniProt.org). R2443P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R2443Q missense unknown ATM R2443Q lies within the FAT domain of the Atm protein (UniProt.org). R2443Q has been identified in sequencing studies (PMID: 27693639, PMID: 27175599), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R2459C missense unknown ATM R2459C lies within the FAT domain of the Atm protein (UniProt.org). R2459C is associated with lack of ATM expression in the presence of P292R (PMID: 23585524), but has not been individually characterized and therefore, its effect on Atm protein function is unknown.
ATM R248Q missense unknown ATM R248Q does not lie within any known functional domains of the Atm protein (UniProt.org). R248Q has been identified in sequencing studies (PMID: 24145436, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R250* nonsense loss of function - predicted ATM R250* results in a premature truncation of the Atm protein at amino acid 250 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R250* is predicted to lead to a loss of Atm protein function.
ATM R2506_N2543del deletion loss of function ATM R2506_N2543del results in the deletion of 38 amino acids in the FAT domain of the Atm protein from amino acids 2506 to 2543 (UniProt.org). R2506_N2543del results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
ATM R250Sfs*3 frameshift loss of function - predicted ATM R250Sfs*3 indicates a shift in the reading frame starting at amino acid 250 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R250Sfs*3 is predicted to lead to a loss of Atm protein function.
ATM R2526S missense unknown ATM R2526S lies within the FAT domain of the Atm protein (UniProt.org). R2526S has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R2547_S2549del deletion loss of function ATM R2547_S2549del results in the deletion of three amino acids in the FAT domain of the Atm protein from amino acids 2547 to 2549 (UniProt.org). R2547_S2549del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM R2598* nonsense loss of function - predicted ATM R2598* results in a premature truncation of the Atm protein at amino acid 2598 of 3056 (UniProt.org). Due to the loss of the PI3K/PI4K and FATC domains (UniProt.org), R2598* is predicted to lead to a loss of Atm protein function.
ATM R2598Q missense unknown ATM R2598Q does not lie within any known functional domains of the Atm protein (UniProt.org). R2598Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R2691C missense loss of function - predicted ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and via structural modeling, demonstrates potential for impaired kinase activity of Atm (PMID: 21993670), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R2832C missense loss of function ATM R2832C lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). R2832C confers a loss of function to the Atm protein as demonstrated by reduced Atm protein expression and increased radiosensitivity of cultured cells (PMID: 18634022).
ATM R2849* nonsense loss of function - predicted ATM R2849* results in a premature truncation of the Atm protein at amino acid 2849 of 3056 (UniProt.org). Due to the loss of the FATC domain, R2848* is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM R2849P missense loss of function ATM R2849P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2849P confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
ATM R2854C missense unknown ATM R2854C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2854C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM R2993* nonsense loss of function - predicted ATM R2993* results in a premature truncation of the Atm protein at amino acid 2993 of 3056 (UniProt.org). Due to the loss of the FATC domain, R2993* is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM R3008C missense loss of function ATM R3008C does not lie within any known functional domains of the Atm protein (UniProt.org). R3008C results in decreased phosphorylation of Atm and downstream targets, failure to induce Tp53 target gene expression and form foci, and defective G2/M checkpoint after DNA damage in culture (PMID: 18573109, PMID: 19431188, PMID: 23585524).
ATM R3008H missense loss of function ATM R3008H does not lie within any known functional domains of the Atm protein (UniProt.org). R3008H results in kinase activity, and recruitment to DNA damage similar to wild-type Atm protein, but decreased Atm activation, altered irradiation-induced cell cycle checkpoint, partial loss of tumor suppressor function (PMID: 33239428), and failure to induce Tp53 target gene expression after DNA damage in patient-derived cells (PMID: 23585524).
ATM R3047* nonsense loss of function - predicted ATM R3047* results in a premature truncation of the Atm protein at amino acid 3047 of 3056 (UniProt.org). R3047* results in a loss of reactive oxygen species-induced phosphorylation of Atm and downstream targets (PMID: 20966255), but demonstrates conflicting effects on DNA-damage induced ATM activation as indicated by loss of Atm and phosphorylation of downstream targets in response to ionizing irradiation in culture (PMID: 19431188), while resulting in Tp53 phosphorylation in response to MRN complex in an in vitro assay and Atm phosphorylation upon camptothecin treatment in patient cell culture (PMID: 20966255), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R337C missense unknown ATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 30181556, PMID: 29335443, PMID: 27334835), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R337H missense unknown ATM R337H does not lie within any known functional domains of the Atm protein (UniProt.org). R337H has been identified in the scientific literature (PMID: 28480077, PMID: 30181556, PMID: 27749841), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R337S missense loss of function ATM R337S does not lie within any known functional domains of the Atm protein (UniProt.org). R337S confers a loss of function to the Atm protein as demonstrated by reduced phosphorylation of Atm target proteins, Tp53 and Smc1 (PMID: 16014569).
ATM R45Q missense no effect - predicted ATM R45Q does not lie within any known functional domains of the Atm protein (UniProt.org). R45Q restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
ATM R805* nonsense loss of function - predicted ATM R805* results in a premature truncation of the Atm protein at amino acid 805 of 3056 (UniProt.org). Due to the loss of all known functional domains of the Atm protein (UniProt.org), R805* is predicted to lead to a loss of Atm protein function.
ATM R832C missense unknown ATM R832C does not lie within any known functional domains of the Atm protein (UniProt.org). R832C has been identified in the scientific literature (PMID: 33181636), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S131* nonsense loss of function - predicted ATM S131* results in a premature truncation of the Atm protein at amino acid 131 of 3056 (UniProt.org). Due to the loss of all known functional domains of the Atm protein (UniProt.org), S131* is predicted to lead to a loss of Atm protein function.
ATM S1403fs frameshift loss of function - predicted ATM S1403fs results in a change in the amino acid sequence of the Atm protein beginning at 1403 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S1403fs is predicted to lead to a loss of Atm protein function.
ATM S1455R missense loss of function ATM S1455R does not lie within any known functional domains of the Atm protein (UniProt.org). S1455R confers a loss of function to the Atm protein as demonstrated by impaired phosphorylation of p53 and Chek2 in cultured cells (PMID: 12969974) and partial inability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438).
ATM S1455Vfs*3 frameshift loss of function - predicted ATM S1455Vfs*3 indicates a shift in the reading frame starting at amino acid 1455 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S1455Vfs*3 is predicted to lead to a loss of Atm protein function.
ATM S1691R missense no effect ATM S1691R does not lie within any known functional domains of the Atm protein (UniProt.org). S1691R demonstrates phosphorylation of Atm and downstream targets and foci formation in response to irradiation to similar levels of wild-type Atm protein in culture (PMID: 19431188).
ATM S1905Ifs*25 frameshift loss of function - predicted ATM S1905Ifs*25 indicates a shift in the reading frame starting at amino acid 1905 and terminating 25 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1905Ifs*25 has not been characterized, however, based on the effects of other truncation mutations downstream of S1905 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM S1983N missense unknown ATM S1983N lies within the FAT domain of the Atm protein (UniProt.org). S1983N has been identified in sequencing studies (PMID: 25528188, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S2017fs frameshift loss of function - predicted ATM S2017fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2017of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S2017f is predicted to lead to a loss of Atm protein function.
ATM S2017T missense unknown ATM S2017T lies within the FAT domain of the Atm protein (UniProt.org). S2017T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM S214fs frameshift loss of function - predicted ATM S214fs results in a change in the amino acid sequence of the Atm protein beginning at aa 214 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S214fs has not been characterized however, based on the effects of other truncation mutations downstream of S214 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
ATM S2394L missense loss of function ATM S2394L lies within the FAT domain of the Atm protein (UniProt.org). S2394L results in decreased protein expression and failure to phosphorylate Atm and downstream targets in response to irradiation in cell culture (PMID: 18573109, PMID: 19431188, PMID: 26677768).
ATM S2407* nonsense loss of function - predicted ATM S2407* results in a premature truncation of the Atm protein at amino acid 2407 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S2407* is predicted to lead to a loss of Atm protein function.
ATM S2489F missense unknown ATM S2489F lies within the FAT domain of the Atm protein (UniProt.org). S2489F has been identified in sequencing studies (PMID: 24145436, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S2592C missense loss of function ATM S2592C does not lie within any known functional domains of the Atm protein (UniProt.org). S2592C confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
ATM S2685T missense no effect ATM S2685T does not lie within any known functional domains of the Atm protein (UniProt.org). S2685T demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
ATM S2707C missense no effect - predicted ATM S2707C does not lie within any known functional domains of the Atm protein (UniProt.org). S2707C restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
ATM S2812Vfs*3 frameshift loss of function - predicted ATM S2812Vfs*3 indicates a shift in the reading frame starting at amino acid 2812 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of the FATC domain, S2812Vfs*3 is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM S2812Y missense unknown ATM S2812Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2812Y has been identified in sequencing studies (PMID: 27304073), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S2855_V2856delinsRI indel loss of function ATM S2855_V2856delinsRI results in a deletion of two amino acids in the PI3K/PI4K domain of the Atm protein from amino acids 2855 to 2856, combined with the insertion of an arginine (R) and an isoleucine (I) at the same site (UniProt.org). S2855_V2856delinsRI results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM S2859F missense unknown ATM S2859F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2859F has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S3001N missense unknown ATM S3001N does not lie within any known functional domains of the Atm protein (UniProt.org). S3001N has been identified in sequencing studies (PMID: 34646395), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM S3027I missense unknown ATM S3027I lies within the FATC domain of the Atm protein (UniProt.org). S3027I has been identified in the scientific literature (PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S421* nonsense loss of function - predicted ATM S421* results in a premature truncation of the Atm protein at amino acid 421 of 3056 (UniProt.org). Due to the loss of the FATC domain (PMID: 16603769), S421* is predicted lead to a loss of Atm protein function.
ATM S49C missense no effect - predicted ATM S49C does not lie within any known functional domains of the Atm protein (UniProt.org). S49C demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM S707P missense unknown ATM S707P does not lie within any known functional domains of the Atm protein (UniProt.org). S707P has been associated with a modest increased risk of breast cancer (PMID: 20826828), and results in decreased Atm protein expression in cultured cells (PMID: 31664505), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
ATM S719* nonsense loss of function - predicted ATM S719* results in a premature truncation of the Atm protein at amino acid 719 of 3056 (UniProt.org). Due to the loss of all known functional domains of the Atm protein (UniProt.org), S719* is predicted to lead to a loss of Atm protein function.
ATM S824F missense loss of function - predicted ATM S824F does not lie within any known functional domains of the Atm protein (UniProt.org). S824F results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM S978A missense unknown ATM S978A does not lie within any known functional domains of the Atm protein (UniProt.org). S978A has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S978C missense unknown ATM S978C does not lie within any known functional domains of the Atm protein (UniProt.org). S978C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S978fs frameshift loss of function - predicted ATM S978fs results in a change in the amino acid sequence of the Atm protein beginning at 978 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S978fs is predicted to lead to a loss of Atm protein function.
ATM S978P missense unknown ATM S978P does not lie within any known functional domains of the Atm protein (UniProt.org). S978P has been identified in sequencing studies (PMID: 16631465), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S99G missense unknown ATM S99G does not lie within any known functional domains of the Atm protein (UniProt.org). S99G has been identified in sequencing studies (PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T1200Lfs*7 frameshift loss of function - predicted ATM T1200Lfs*7 indicates a shift in the reading frame starting at amino acid 1200 and terminating 6 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), T1200Lfs*7 is predicted to lead to a loss of Atm protein function.
ATM T1350M missense unknown ATM T1350M does not lie within any known functional domains of the Atm protein (UniProt.org). T1350M has been identified in sequencing studies (PMID: 30181556, PMID: 28119368), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T1743I missense loss of function ATM T1743I does not lie within any known functional domains of the Atm protein (UniProt.org). T1743I results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM T1756I missense unknown ATM T1756I does not lie within any known functional domains of the Atm protein (UniProt.org). T1756I has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T1880R missense unknown ATM T1880R does not lie within any known functional domains of the Atm protein (UniProt.org). T1880R has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T2031I missense no effect - predicted ATM T2031I lies within the FAT domain of the Atm protein (UniProt.org). T2031I restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
ATM T2333fs frameshift loss of function - predicted ATM T2333fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2333 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), T2333fs is predicted to lead to a loss of Atm protein function.
ATM T2333Nfs*40 frameshift loss of function - predicted ATM T2333Nfs*40 indicates a shift in the reading frame starting at amino acid 2333 and terminating 40 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), T2333Nfs*40 is predicted to lead to a loss of Atm protein function.
ATM T2666A missense loss of function ATM T2666A does not lie within any known functional domains of the Atm protein (UniProt.org). T2666A results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
ATM T2743M missense unknown ATM T2743M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2743M has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T2902fs frameshift loss of function - predicted ATM T2902fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2902 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the FATC domain, T2902fs is predicted to lead to a loss of Atm protein function (PMID: 16603769).
ATM T2934I missense unknown ATM T2934I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2934I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T2947S missense loss of function - predicted ATM T2947S (also referred to as T2946S) lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). T2947S is predicted to confer a loss of function to the Atm protein, as demonstrated by defective kinase activity (PMID: 16014569).
ATM T593del deletion unknown ATM T593del results in the deletion of an amino acid in the Atm protein (UniProt.org). T593del has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T86I missense unknown ATM T86I does not lie within any known functional domains of the Atm protein (UniProt.org). T86I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM V1268* nonsense loss of function - predicted ATM V1268* results in a premature truncation of the Atm protein at amino acid 1268 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), V1268* is predicted to lead to a loss of Atm protein function.
ATM V1268fs frameshift loss of function - predicted ATM V1268fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1268 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), V1268fs is predicted to lead to a loss of Atm protein function.
ATM V1538fs frameshift loss of function - predicted ATM V1538fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1538 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V1538fs is predicted to lead to a loss of Atm protein function.
ATM V1570A missense unknown ATM V1570A does not lie within any known functional domains of the Atm protein (UniProt.org). V1570A has been identified in sequencing studies (PMID: 11606401, PMID: 32659497, PMID: 33134171), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM V1671D missense unknown ATM V1671D does not lie within any known functional domains of the Atm protein (UniProt.org). V1671D has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V1841I missense no effect - predicted ATM V1841I does not lie within any known functional domains of the Atm protein (UniProt.org). V1841I restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
ATM V1941L missense loss of function ATM V1941L lies within the FAT domain of the Atm protein (UniProt.org). V1941L results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and failure to induce apoptosis in response to irradiation in culture (PMID: 19431188, PMID: 16014569).
ATM V2119fs frameshift loss of function - predicted ATM V2119fs results in a change in the amino acid sequence of the Atm protein beginning at 2119 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V2119fs is predicted to lead to a loss of Atm protein function.
ATM V2424G missense loss of function ATM V2424G lies within the FAT domain of the Atm protein (UniProt.org). V2424G results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and impaired G2/M checkpoint in response to irradiation in culture (PMID: 19431188, PMID: 11830610).
ATM V2439A missense unknown ATM V2439A lies within the FAT domain of the Atm protein (UniProt.org). V2439A has been identified in sequencing studies (PMID: 12810666), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V2662del deletion loss of function ATM V2662del results in the deletion of an amino acid of the Atm protein at amino acid 2662 (UniProt.org). V2662del confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
ATM V2716A missense loss of function ATM V2716A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2716A confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
ATM V2727A missense unknown ATM V2727A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2727A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V2731G missense unknown ATM V2731G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2731G has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V278fs frameshift loss of function - predicted ATM V278fs results in a change in the amino acid sequence of the Atm protein beginning at aa 278 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), V278fs is predicted to lead to a loss of Atm protein function.
ATM V2951F missense unknown ATM V2951F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2951F has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V410A missense unknown ATM V410A does not lie within any known functional domains of the Atm protein (UniProt.org). V410A has been identified in the scientific literature (PMID: 29906251, PMID: 25148578, PMID: 14695997), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V519I missense loss of function - predicted ATM V519I does not lie within any known functional domains of the Atm protein (UniProt.org). V519I results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
ATM V566Ifs*6 frameshift loss of function - predicted ATM V566Ifs*6 indicates a shift in the reading frame starting at amino acid 566 and terminating 6 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), V566Ifs*6 is predicted to lead to a loss of Atm protein function.
ATM V60F missense unknown ATM V60F does not lie within any known functional domains of the Atm protein (UniProt.org). V60F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V630M missense unknown ATM V630M does not lie within any known functional domains of the Atm protein (UniProt.org). V630M has been identified in sequencing studies (PMID: 27468087), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM W2104* nonsense loss of function - predicted ATM W2104* results in a premature truncation of the Atm protein at amino acid 2104 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), W2104* is predicted to lead to a loss of Atm protein function.
ATM W2109* nonsense loss of function - predicted ATM W2109* results in a premature truncation of the Atm protein at amino acid 2109 of 3056 (UniProt.org). Due to the loss of the FATC domain (PMID: 16603769), W2109* is predicted lead to a loss of Atm protein function.
ATM W2845C missense unknown ATM W2845C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). W2845C has been identified in sequencing studies (PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM W3052C missense unknown ATM W3052C lies within the FATC domain of the Atm protein (UniProt.org). W3052C has been identified in sequencing studies (PMID: 26837699), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM W412* nonsense loss of function - predicted ATM W412* results in a premature truncation of the Atm protein at amino acid 412 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W412* is predicted to lead to a loss of Atm protein function.
ATM W57* nonsense loss of function - predicted ATM W57* results in a premature truncation of the Atm protein at amino acid 57 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W57* is predicted to result in a loss of Atm protein function.
ATM Y1124F missense unknown ATM Y1124F does not lie within any known functional domains of the Atm protein (UniProt.org). Y1124F has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y1961C missense loss of function ATM Y1961C lies within the FAT domain of the Atm protein (UniProt.org). Y1961C results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
ATM Y2019C missense loss of function - predicted ATM Y2019C lies within the FAT domain of the Atm protein (UniProt.org). Y2019C results in a loss of phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
ATM Y2371* nonsense loss of function - predicted ATM Y2371* results in a premature truncation of the Atm protein at amino acid 2371 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Y2371* is predicted to lead to a loss of Atm protein function.
ATM Y2398C missense unknown ATM Y2398C lies within the FAT domain of the Atm protein (UniProt.org). Y2398C has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2437C missense unknown ATM Y2437C lies within the FAT domain of the Atm protein (UniProt.org). Y2437C has been identified in sequencing studies (PMID: 10939806, PMID: 31552911), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2437S missense unknown ATM Y2437S lies within the FAT domain of the Atm protein (UniProt.org). Y2437S has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2755C missense unknown ATM Y2755C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2755C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2954C missense unknown ATM Y2954C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2954C has been identified in sequencing studies (PMID: 22634756, PMID: 23415222, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y54* nonsense loss of function - predicted ATM Y54* results in a premature truncation of the Atm protein at amino acid 54 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Y54* is predicted to lead to a loss of Atm protein function.
ATR A1896D missense unknown ATR A1896D lies within the FAT domain of the Atr protein (UniProt.org). A1896D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A1896T missense unknown ATR A1896T lies within the FAT domain of the Atr protein (UniProt.org). A1896T has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A1934D missense unknown ATR A1934D lies within the FAT domain of the Atr protein (UniProt.org). A1934D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A2002G missense unknown ATR A2002G lies within the FAT domain of the Atr protein (UniProt.org). A2002G has been identified in sequencing studies (PMID: 29681454, PMID: 17344846, PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A2165V missense unknown ATR A2165V lies within the FAT domain of the Atr protein (UniProt.org). A2165V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR C347* nonsense loss of function - predicted ATR C347* results in a premature truncation of the Atr protein at amino acid 347 of 2644 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C347* is predicted to lead to a loss of Atr protein function.
ATR D1380Y missense unknown ATR D1380Y does not lie within any known functional domains of the Atr protein (UniProt.org). D1380Y has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D1470N missense unknown ATR D1470N does not lie within any known functional domains of the Atr protein (UniProt.org). D1470N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR D155E missense unknown ATR D155E does not lie within any known functional domains of the Atr protein (UniProt.org). D155E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D1560N missense unknown ATR D1560N does not lie within any known functional domains of the Atr protein (UniProt.org). D1560N has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D2118N missense unknown ATR D2118N lies within the FAT domain of the Atr protein (UniProt.org). D2118N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D2331Y missense unknown ATR D2331Y lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). D2331Y has been identified in the scientific literature (PMID: 30957057, PMID: 29530932), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D2494E missense loss of function ATR D2494E lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). D2494E results in a loss of Atr autophosphorylation and Atr-mediated phosphorylation of p53 and c-jun in cell culture (PMID: 10597277).
ATR D983N missense unknown ATR D983N does not lie within any known functional domains of the Atr protein (UniProt.org). D983N has been identified in sequencing studies (PMID: 27149842, PMID: 25344691, PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E1059* nonsense loss of function - predicted ATR E1059* results in a premature truncation of the Atr protein at amino acid 1059 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1059* is predicted to lead to a loss of Atr protein function.
ATR E1229* nonsense loss of function - predicted ATR E1229* results in a premature truncation of the Atr protein at amino acid 1229 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1229* is predicted to lead to a loss of Atr protein function.
ATR E1375G missense unknown ATR E1375G does not lie within any known functional domains of the Atr protein (UniProt.org). E1375G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E1602D missense unknown ATR E1602D does not lie within any known functional domains of the Atr protein (UniProt.org). E1602D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2011K missense unknown ATR E2011K lies within the FAT domain of the Atr protein (UniProt.org). E2011K has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2103A missense unknown ATR E2103A lies within the FAT domain of the Atr protein (UniProt.org). E2103A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2378V missense unknown ATR E2378V lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). E2378V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E254G missense unknown ATR E254G does not lie within any known functional domains of the Atr protein (UniProt.org). E254G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2626* nonsense unknown ATR E2626* results in a premature truncation of the Atr protein at amino acid 2626 of 2644 (UniProt.org). E2626* has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR E91* nonsense loss of function - predicted ATR E91* results in a premature truncation of the Atr protein at amino acid 91 of 2644 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E91* is predicted to lead to a loss of Atr protein function.
ATR F676fs frameshift loss of function - predicted ATR F676fs results in a change in the amino acid sequence of the Atr protein beginning at aa 676 of 2644, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), F676fs is predicted to lead to a loss of Atr protein function.
ATR F732L missense unknown ATR F732L does not lie within any known functional domains of the Atr protein (UniProt.org). F732L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181C missense unknown ATR G1181C does not lie within any known functional domains of the Atr protein (UniProt.org). G1181C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181F missense unknown ATR G1181F does not lie within any known functional domains of the Atr protein (UniProt.org). G1181F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181S missense unknown ATR G1181S does not lie within any known functional domains of the Atr protein (UniProt.org). G1181S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181V missense unknown ATR G1181V does not lie within any known functional domains of the Atr protein (UniProt.org). G1181V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G2530C missense unknown ATR G2530C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). G2530C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H2153R missense unknown ATR H2153R lies within the FAT domain of the Atr protein (UniProt.org). H2153R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H2203N missense unknown ATR H2203N does not lie within any known functional domains of the Atr protein (UniProt.org). H2203N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H4R missense unknown ATR H4R does not lie within any known functional domains of the Atr protein (UniProt.org). H4R has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H90Y missense unknown ATR H90Y does not lie within any known functional domains of the Atr protein (UniProt.org). H90Y has been identified in sequencing studies (PMID: 29793804, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR I1526V missense unknown ATR I1526V does not lie within any known functional domains of the Atr protein (UniProt.org). I1526V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR I1831S missense unknown ATR I1831S lies within the FAT domain of the Atr protein (UniProt.org). I1831S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR I1851V missense unknown ATR I1851V lies within the FAT domain of the Atr protein (UniProt.org). I1851V has been identified in sequencing studies (PMID: 24755471, PMID: 31513681), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR I219V missense unknown ATR I219V does not lie within any known functional domains of the Atr protein (UniProt.org). I219V has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR I774fs frameshift loss of function - predicted ATR I774fs results in a change in the amino acid sequence of the Atr protein beginning at aa 774 of 2644, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I774fs is predicted to lead to a loss of Atr protein function.
ATR I774Nfs*3 frameshift loss of function - predicted ATR I774Nfs*3 indicates a shift in the reading frame beginning at amino acid 774 and terminating 3 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I774Nfs*3 is predicted to lead to a loss of Atr protein function.
ATR I774Nfs*5 frameshift loss of function - predicted ATR I774Nfs*5 indicates a shift in the reading frame beginning at amino acid 774 and terminating 5 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I774Nfs*5 is predicted to lead to a loss of Atr protein function.
ATR I774Yfs*5 frameshift loss of function - predicted ATR I774Yfs*5 indicates a shift in the reading frame beginning at amino acid 774 and terminating 5 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I774Yfs*5 is predicted to lead to a loss of Atr protein function.
ATR K2221E missense unknown ATR K2221E does not lie within any known functional domains of the Atr protein (UniProt.org). K2221E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR K2310N missense unknown ATR K2310N does not lie within any known functional domains of the Atr protein (UniProt.org). K2310N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR K297N missense unknown ATR K297N does not lie within any known functional domains of the Atr protein (UniProt.org). K297N has been identified in sequencing studies (PMID: 25528188, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR K764E missense unknown ATR K764E does not lie within any known functional domains of the Atr protein (UniProt.org). K764E has been identified in sequencing studies (PMID: 28522871, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR K771fs frameshift loss of function - predicted ATR K771fs results in a change in the amino acid sequence of the Atr protein beginning at aa 771 of 2644, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K771fs is predicted to lead to a loss of Atr protein function.
ATR L1361* nonsense loss of function - predicted ATR L1361* results in a premature truncation of the Atr protein at amino acid 1361 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), L1361* is predicted to lead to a loss of Atr protein function.
ATR L1361V missense unknown ATR L1361V lies within HEAT repeat 2 of the Atr protein (UniProt.org). L1361V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L1397M missense unknown ATR L1397M does not lie within any known functional domains of the Atr protein (UniProt.org). L1397M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR L1707I missense unknown ATR L1707I lies within the FAT domain of the Atr protein (UniProt.org). L1707I has been identified in sequencing studies (PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L1746I missense unknown ATR L1746I lies within the FAT domain of the Atr protein (UniProt.org). L1746I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L1834F missense unknown ATR L1834F lies within the FAT domain of the Atr protein (UniProt.org). L1834F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L2076V missense unknown ATR L2076V lies within the FAT domain of the Atr protein (UniProt.org). L2076V has been identified in sequencing studies (PMID: 27997549), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L2306F missense unknown ATR L2306F does not lie within any known functional domains of the Atr protein (UniProt.org). L2306F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR L2593I missense unknown ATR L2593I does not lie within any known functional domains of the Atr protein (UniProt.org). L2593I has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L298R missense unknown ATR L298R does not lie within any known functional domains of the Atr protein (UniProt.org). L298R has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR M211I missense unknown ATR M211I does not lie within any known functional domains of the Atr protein (UniProt.org). M211I has been identified in sequencing studies (PMID: 31173267), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR M211T missense unknown ATR M211T does not lie within any known functional domains of the Atr protein (UniProt.org). M211T has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR M328V missense unknown ATR M328V does not lie within any known functional domains of the Atr protein (UniProt.org). M328V has been identified in sequencing studies (PMID: 27248819), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR M335I missense unknown ATR M335I does not lie within any known functional domains of the Atr protein (UniProt.org). M335I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR P1530Q missense unknown ATR P1530Q does not lie within any known functional domains of the Atr protein (UniProt.org). P1530Q has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR Q1732L missense unknown ATR Q1732L lies within the FAT domain of the Atr protein (UniProt.org). Q1732L has been identified in sequencing studies (PMID: 32982275), but has not been biochemically characterized and therefore, its effect on Akt1 protein function is unknown (PubMed, May 2022).
ATR Q1845* nonsense loss of function - predicted ATR Q1845* results in a premature truncation of the Atr protein at amino acid 1845 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), Q1845* is predicted to lead to a loss of Atr protein function.
ATR Q2635H missense unknown ATR Q2635H lies within the FATC domain of the Atr protein (UniProt.org). Q2635H has been identified in sequencing studies (PMID: 27502118), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR Q412* nonsense loss of function - predicted ATR Q412* results in a premature truncation of the Atr protein at amino acid 412 of 2644 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q412* is predicted to lead to a loss of Atr protein function.
ATR R1015Q missense unknown ATR R1015Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1015Q has been identified in sequencing studies (PMID: 30239046, PMID: 30200630, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R1025C missense unknown ATR R1025C does not lie within any known functional domains of the Atr protein (UniProt.org). R1025C has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R109L missense unknown ATR R109L does not lie within any known functional domains of the Atr protein (UniProt.org). R109L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R109W missense unknown ATR R109W does not lie within any known functional domains of the Atr protein (UniProt.org). R109W has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1183Q missense unknown ATR R1183Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1183Q has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1201C missense unknown ATR R1201C does not lie within any known functional domains of the Atr protein (UniProt.org). R1201C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1368* nonsense loss of function - predicted ATR R1368* results in a premature truncation of the Atr protein at amino acid 1368 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1368* is predicted to lead to a loss of Atr protein function.
ATR R1412Q missense unknown ATR R1412Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1412Q has been identified in sequencing studies (PMID: 30181556, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R1503* nonsense loss of function - predicted ATR R1503* results in a premature truncation of the Atr protein at amino acid 1503 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1503* is predicted to lead to a loss of Atr protein function.
ATR R1647C missense unknown ATR R1647C lies within the FAT domain of the Atr protein (UniProt.org). R1647C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1724M missense unknown ATR R1724M lies within the FAT domain of the Atr protein (UniProt.org). R1724M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR R177Q missense unknown ATR R177Q does not lie within any known functional domains of the Atr protein (UniProt.org). R177Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R1814Efs*10 frameshift loss of function - predicted ATR R1814Efs*10 indicates a shift in the reading frame beginning at amino acid 1814 and terminating ten residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), R1814Efs*10 is predicted to lead to a loss of Atr protein function.
ATR R1814Kfs*8 frameshift loss of function - predicted ATR R1814Kfs*8 indicates a shift in the reading frame beginning at amino acid 1814 and terminating 8 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), R1814Kfs*8 is predicted to lead to a loss of Atr protein function.
ATR R1886* nonsense loss of function - predicted ATR R1886* results in a premature truncation of the Atr protein at amino acid 1886 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain (UniProt.org), R1886* is predicted to lead to a loss of Atr protein function.
ATR R1886Q missense unknown ATR R1886Q lies within the FAT domain of the Atr protein (UniProt.org). R1886Q has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2356C missense unknown ATR R2356C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2356C has been identified in sequencing studies (PMID: 30239046, PMID: 25159915), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2407C missense unknown ATR R2407C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407C has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R2407H missense unknown ATR R2407H lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407H has been identified in sequencing studies (PMID: 26845104, PMID: 24192927), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2425Q missense unknown ATR R2425Q lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2425Q has been identified in the scientific literature (PMID: 31748433, PMID: 27693639), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2514C missense unknown ATR R2514C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2514C has been identified in sequencing studies (PMID: 30239046, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R515H missense unknown ATR R515H does not lie within any known functional domains of the Atr protein (UniProt.org). R515H has been identified in sequencing studies (PMID: 30181556, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R968I missense unknown ATR R968I does not lie within any known functional domains of the Atr protein (UniProt.org). R968I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R989C missense unknown ATR R989C does not lie within any known functional domains of the Atr protein (UniProt.org). R989C has been identified in the sequencing studies (PMID: 27159395), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR S1142G missense unknown ATR S1142G does not lie within any known functional domains of the Atr protein (UniProt.org). S1142G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S1325C missense unknown ATR S1325C does not lie within any known functional domains of the Atr protein (UniProt.org). S1325C has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S1325N missense unknown ATR S1325N does not lie within any known functional domains of the Atr protein (UniProt.org). S1325N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S1645F missense unknown ATR S1645F lies within the FAT domain of the Atr protein (UniProt.org). S1645F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S601F missense loss of function ATR S601F does not lie within any known functional domains of the Atr protein (UniProt.org). S601F confers a loss of function to the Atr protein as indicated by decreased Chk1 phosphorylation induced by UVB irradiation in culture (PMID: 28273450).
ATR S684Y missense unknown ATR S684Y does not lie within any known functional domains of the Atr protein (UniProt.org). S684Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S902Y missense unknown ATR S902Y does not lie within any known functional domains of the Atr protein (UniProt.org). S902Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T1401A missense unknown ATR T1401A does not lie within any known functional domains of the Atr protein (UniProt.org). T1401A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T2516I missense unknown ATR T2516I lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). T2516I has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T2580N missense unknown ATR T2580N does not lie within any known functional domains of the Atr protein (UniProt.org). T2580N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T541I missense unknown ATR T541I does not lie within any known functional domains of the Atr protein (UniProt.org). T541I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR V316I missense unknown ATR V316I does not lie within any known functional domains of the Atr protein (UniProt.org). V316I has been identified in sequencing studies (PMID: 25589003), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR V915A missense unknown ATR V915A does not lie within any known functional domains of the Atr protein (UniProt.org). V915A has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR V959M missense unknown ATR V959M does not lie within any known functional domains of the Atr protein (UniProt.org). V959M has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR W1591L missense unknown ATR W1591L does not lie within any known functional domains of the Atr protein (UniProt.org). W1591L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR W2035C missense unknown ATR W2035C lies within the FAT domain of the Atr protein (UniProt.org). W2035C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR Y1404* nonsense loss of function - predicted ATR Y1404* results in a premature truncation of the Atr protein at amino acid 1404 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Y1404* is predicted to lead to a loss of Atr protein function.
ATR Y2132* nonsense loss of function - predicted ATR Y2132* results in a premature truncation of the Atr protein at amino acid 2132 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain (UniProt.org), Y2132* is predicted to lead to a loss of Atr protein function.
ATR Y2132D missense unknown ATR Y2132D lies within the FAT domain of the Atr protein (UniProt.org). Y2132D has been identified in sequencing studies (PMID: 17344846, PMID: 25589003, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR Y2637C missense unknown ATR Y2637C lies within the FATC domain of the Atr protein (UniProt.org). Y2637C has been identified in sequencing studies (PMID: 29884412, PMID: 25275298, PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
AXL A273V missense unknown AXL A273V lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). A273V has been associated with resistance to EGFR inhibitors (Cancer Res 2018;78(13 Suppl): nr 4903), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2022). Y
AXL A674V missense unknown AXL A674V lies within the protein kinase domain of the Axl protein (UniProt.org). A674V has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL A857V missense no effect - predicted AXL A857V does not lie within any known functional domains of the Axl protein (UniProt.org). A857V has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Axl (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function.
AXL C117R missense unknown AXL C117R lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). C117R has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL C311F missense unknown AXL C311F lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). C311F induces similar cell proliferation and cell viability as wild-type Axl in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL D382G missense unknown AXL D382G lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). D382G has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL E388D missense unknown AXL E388D lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). E388D has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL E524K missense unknown AXL E524K lies within the cytoplasmic domain of the Axl protein (UniProt.org). E524K has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL E818K missense unknown AXL E818K lies within the cytoplasmic domain of the Axl protein (UniProt.org). E818K has been identified in the scientific literature (PMID: 25452114), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL F631S missense unknown AXL F631S lies within the protein kinase domain of the Axl protein (UniProt.org). F631S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL F652L missense unknown AXL F652L lies within the protein kinase domain of the Axl protein (UniProt.org). F652L has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G331A missense unknown AXL G331A lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). G331A has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G335fs frameshift loss of function - predicted AXL G335fs results in a change in the amino acid sequence of the Axl protein beginning at aa 335 of 894, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), G335fs is predicted to lead to a loss of Axl protein function.
AXL G413V missense loss of function - predicted AXL G413V lies within the fibronectin type-III domain 2 of the Axl protein (UniProt.org). G413V has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to result in a loss of Axl protein function.
AXL G413W missense unknown AXL G413W lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). G413W has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G415A missense unknown AXL G415A lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). G415A has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G46V missense unknown AXL G46V lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G46V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G517S missense unknown AXL G517S lies within the cytoplasmic domain of the Axl protein (UniProt.org). G517S has been identified in sequencing studies (PMID: 18056464, PMID: 29681454), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G692R missense unknown AXL G692R lies within the protein kinase domain of the Axl protein (UniProt.org). G692R has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G736R missense unknown AXL G736R lies within the protein kinase domain of the Axl protein (UniProt.org). G736R has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G736W missense loss of function - predicted AXL G736W lies within the protein kinase domain of the Axl protein (UniProt.org). G736W has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to result in a loss of Axl protein function.
AXL G73V missense unknown AXL G73V lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G73V has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G89D missense unknown AXL G89D lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G89D has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL H670Q missense unknown AXL H670Q lies within the protein kinase domain of the Axl protein (UniProt.org). H670Q has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I466L missense unknown AXL I466L lies within the transmembrane domain of the Axl protein (UniProt.org). I466L has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I619V missense unknown AXL I619V lies within the protein kinase domain of the Axl protein (UniProt.org). I619V has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I656N missense unknown AXL I656N lies within the protein kinase domain of the Axl protein (UniProt.org). I656N has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I758M missense unknown AXL I758M lies within the protein kinase domain of the Axl protein (UniProt.org). I758M has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL K476T missense unknown AXL K476T lies within the cytoplasmic domain of the Axl protein (UniProt.org). K476T has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL K567M missense loss of function - predicted AXL K567M lies within the protein kinase domain of the Axl protein (UniProt.org). K567M results in a loss of the ATP-binding site, and impaired binding to Plc gamma, P85, Grb2, C-src and Lck in an in vitro assay (PMID: 9178760), and therefore, is predicted to result in a loss of Axl protein function.
AXL K567R missense loss of function - predicted AXL K567R lies within the ATP-binding site and protein kinase domain of the Axl protein (UniProt.org). K567R results in a loss of ubiquitination leading to increased Axl accumulation at the cell surface in culture (PMID: 31171001), and therefore, is predicted to lead to a loss of Axl protein function.
AXL L423Q missense loss of function - predicted AXL L423Q lies within the fibronectin type-III domain 2 of the Axl protein (UniProt.org). L423Q has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to result in a loss of Axl protein function.
AXL L455I missense unknown AXL L455I lies within the transmembrane domain of the Axl protein (UniProt.org). L455I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL