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Gene Symbol ABL1
Synonyms ABL | BCR-ABL | bcr/abl | c-ABL | c-ABL1 | CHDSKM | JTK7 | p150 | v-abl
Gene Description ABL1, ABL proto-oncogene 1, non-receptor tyrosine kinase, plays a role in regulation of cell growth through ERK5, Rac/JNK, and Stat1/3 pathways (PMID: 10373409). Fusion proteins of BCR-ABL1 resulting in constitutive kinase activity have been reported in various cancers (PMID: 18851712, PMID: 30125955) and a number of Abl1 mutations in the context of BCR-ABL1 have been demonstrated to confer drug resistance (PMID: 24456693).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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, Sep 2019).
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
A344P missense unknown ABL1 A344P lies within the protein kinase domain of the Abl1 protein (UniProt.org). A344P is associated with resistance to some Abl1 inhibitors (PMID: 31543464), and has not been characterized in the canonical Abl1 isoform, but results in increased Abl1 phosphorylation and transformation activity when expressed in the Abl1 1b splice isoform (PMID: 27890928), and therefore, is predicted to lead to a gain of Abl1 protein function. Y
act mut unknown gain of function ABL1 act mut indicates that this variant results in a gain of function in the Abl1 protein. However, the specific amino acid change has not been identified.
amp none no effect ABL1 amplification indicates an increased number of copies of the ABL1 gene. However, the mechanism causing the increase is unspecified.
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, Nov 2019).
C475W missense unknown ABL1 C475W lies within the protein kinase domain of the Abl1 protein (UniProt.org). C457W 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, Nov 2019).
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 confer a gain of function to the Abl1 protein. Y
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, Nov 2019).
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
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
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, Nov 2019).
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-ABL (PMID: 21562040, PMID: 16754879), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Sep 2019). Y
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, Nov 2019).
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, Nov 2019).
E281K missense unknown ABL1 E281K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E281K has been associated with drug resistance in the context of BCR-ABL (PMID: 21193419), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Sep 2019). Y
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, Nov 2019).
E308* nonsense loss of function - predicted ABL1 E308* results in a premature truncation of the Abl1 protein at amino acid 308 of 1149 (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.
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, Sep 2019). Y
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, Oct 2019). Y
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2019).
E453K missense unknown ABL1 E453K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E459K has been associated with Abl1 inhibitor resistance in combination with other Abl1 variants 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, Nov 2019).
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, Oct 2019). Y
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, Nov 2019).
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: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2019). Y
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, Oct 2019). Y
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, Sep 2019). Y
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, Sep 2019). Y
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), 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, Oct 2019). Y
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, Sep 2019). Y
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, Oct 2019). Y
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, Oct 2019). Y
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, Oct 2019). Y
fusion fusion unknown ABL1 fusion indicates a fusion of the ABL1 gene, but the fusion partner is unknown.
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), 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
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, Sep 2019).
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, Sep 2019).
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, Nov 2019).
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, Sep 2019).
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, and is predicted to lead to a gain of Abl1 function (PMID: 26758680).
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, Nov 2019).
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 Sep 2019). Y
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, Oct 2019). Y
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 (PubMed, Dec 2019).
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, Nov 2019).
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, Sep 2019). Y
inact mut unknown loss of function ABL1 inact mut indicates that this variant results in a loss of function of the Abl1 protein. However, the specific amino acid change has not been identified.
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, Nov 2019).
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, Sep 2019). Y
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 to the loss of the DNA-binding and actin-binding regions (UniProt.org), R596* is predicted to lead to a loss of Abl1 protein function.
K605del deletion unknown ABL1 K605del (also reported as K624del in isoform IB) results in the deletion of an amino acid in the nuclear localization signal motif 1 of the Abl1 protein at amino acid 605 (UniProt.org). K605del has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2019).
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, Sep 2019). Y
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, Mar 2020). Y
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, Sep 2019). Y
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, Oct 2019). Y
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, Nov 2019).
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, Nov 2019).
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, Sep 2019). Y
M351T missense unknown ABL1 M351T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M351T results in a loss of inhibitor binding and has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040), and results in decreased transformation activity and kinase activity in the context of BCR-ABL1 compared to wild-type BCR-ABL1 (PMID: 16880519), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2019). Y
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, Oct 2019). Y
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, Nov 2019).
mutant unknown unknown ABL1 mutant indicates an unspecified mutation in the ABL1 gene.
over exp none no effect ABL1 over exp indicates an over expression of the Abl1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
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, Sep 2019). Y
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 to the loss of a portion of the protein kinase domain (UniProt.org), P309fs is predicted to lead to a loss of Abl1 protein function.
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, Nov 2019).
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
P918S missense unknown ABL1 P918S lies within the DNA-binding region 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, Nov 2019).
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, Sep 2019).
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, Oct 2019). Y
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, Sep 2019).
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, Mar 2020).
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).
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 to the loss of a portion of the protein kinase domain (UniProt.org), R362fs is predicted to lead to a loss of Abl1 protein function.
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, Nov 2019).
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, Nov 2019).
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 to the loss of the DNA-binding and actin-binding regions (UniProt.org), R577* is predicted to lead to a loss of Abl1 protein function.
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, Oct 2019). Y
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, Sep 2019).
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, Nov 2019).
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, Sep 2019). Y
T315I missense unknown ABL1 T315I is a gatekeeper mutation that lies within the hinge region of the protein kinase domain of the Abl1 protein (PMID: 18794843). T315I has been demonstrated to occur as a secondary resistance mutation and results in increased kinase activity and transformation in the context of BCR-ABL1 in cell culture (PMID: 11423618, PMID: 18794843, PMID: 27890928), and results in reduced 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
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, Oct 2019). Y
T315M missense unknown ABL1 T315M lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315M is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402, PMID: 31543464), demonstrates catalytic efficiency (kcat/km) similar to wild-type protein in an in vitro assay (PMID: 30684523), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Feb 2020). Y
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, Sep 2019). Y
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, Sep 2019).
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, Oct 2019). Y
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, Oct 2019). Y
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, Nov 2019).
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
wild-type none no effect Wild-type ABL1 indicates that no mutation has been detected within the ABL1 gene.
Y253F missense gain of function 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 and results in increased kinase activity and enhanced cell proliferation in culture (PMID: 16880519, PMID: 24487968). Y
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
Y440C missense unknown ABL1 Y440C lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y440C has been identified in the scientific literature (PMID: 30584318), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2019).
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, Nov 2019).
ETV6 - ABL1 fusion gain of function ETV6-ABL1 results from the fusion of ETV6 (also referred to as TEL) and ABL1, demonstrating increased kinase activity (PMID: 9695962) and the ability to induce CML-like myeloproliferative disease in mice (PMID: 12036890) and in cell culture (PMID: 9695962).