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Gene Symbol ATM
Synonyms AT1 | ATA | ATC | ATD | ATDC | ATE | TEL1 | TELO1
Gene Description ATM, ATM serine/threonine kinase, is a member of the serine-threonine kinase family and coordinates cellular responses to DNA damage through activation of distinct DNA repair and signaling pathways (PMID: 22079189). ATM germline mutations are associated with ataxia telangiectasia (PMID: 27283171) and ATM somatic mutations are commonly observed in endometrial, colon, pancreatic, breast cancers (PMID: 27283171, PMID: 27413114) and urothelial cancer (PMID: 29682192).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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, Jan 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Apr 2020).
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, Jan 2020).
A1742P missense loss of function - predicted ATM A1742P does not lie within any known functional domains of the Atm protein (UniProt.org). A1742P is predicted to confer a loss of function to the Atm protein, as demonstrated by defective kinase activity (PMID: 16014569).
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, Feb 2020).
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, Feb 2020).
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.
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).
A220V missense no effect - predicted ATM A220V does not lie within any known functional domains of the Atm protein (UniProt.org). A220V increases cell viability and proliferation in the presence of radiation to the same extent as wild-type Atm (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
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), and therefore, is predicted to have no effect on Atm protein function.
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, Feb 2020).
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, Jan 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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).
A59S missense loss of function - predicted ATM A59S does not lie within any known functional domains of the Atm protein (UniProt.org). A59S is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
amp none no effect ATM amplification indicates an increased number of copies of the ATM gene. However, the mechanism causing the increase is unspecified.
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.
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 function.
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, Jan 2020).
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, Jan 2020).
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.
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, Jan 2020).
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, Feb 2020).
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.
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).
D1853N missense no effect - predicted ATM D1853N does not lie within any known functional domains of the Atm protein (Uniprot.org). D1853N 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.
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.
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, Feb 2020).
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, Jan 2020).
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, Feb 2020).
D2625_A2626delinsEP indel unknown ATM D2625_A2626delinsEP results in a deletion of two amino acids of the Atm protein from amino acids 2625 to 2626, 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, Mar 2020).
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).
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, Jan 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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, Jan 2020).
dec exp none no effect ATM dec exp indicates decreased expression of the Atm protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
del deletion loss of function ATM del indicates a deletion of the ATM gene.
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.
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 all known functional domains (UniProt.org), E1666* is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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 all known functional domains (UniProt.org), E1978* is predicted to lead to a loss of Atm protein function.
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.
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, Jan 2020).
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).
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 all known functional domains (UniProt.org), E2272* is predicted to lead to a loss of Atm protein function.
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 of the PI3K/PI4K and FATC domains (UniProt.org), E2304Gfs*69 is predicted to lead to a loss of Atm protein function.
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.
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, Jan 2020).
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.
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.
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, Feb 2020).
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, Feb 2020).
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.
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, Jan 2020).
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, Jan 2020).
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, Jan 2020).
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.
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).
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, Jan 2020).
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, Jan 2020).
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, Feb 2020).
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.
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, Jan 2020).
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, Feb 2020).
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, Feb 2020).
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 all known functional domains (UniProt.org), G2083* is predicted to lead to a loss of Atm protein function.
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, Jan 2020).
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, Jan 2020).
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, Jan 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2020).
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).
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).
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, Feb 2020).
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, Feb 2020).
H1380Y missense loss of function - predicted ATM H1380Y is located in the c-Abl binding domain of the Atm protein (PMID: 12969974). H1380Y likely impairs the interaction of Atm with c-Abl, resulting in defective c-Abl activation (PMID: 12969974).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
H2038Y missense loss of function - predicted ATM H2038Y lies within the FAT domain of the Atm protein (UniProt.org). H2038Y is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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).
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, Jan 2020).
H2872R missense unknown ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2020).
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, Jan 2020).
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).
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 all known functional domains (UniProt.org), I1849fs is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
inact mut unknown loss of function ATM inact mut indicates that this variant results in a loss of function of the Atm protein. However, the specific amino acid change has not been identified.
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 all known functional domains (UniProt.org), K1410* is predicted to lead to a loss of Atm protein function.
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).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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.
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.
K2749I missense loss of function - predicted ATM K2749I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). K2749I is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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).
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 (UniProt.org), K2811fs is predicted to lead to a loss of Atm protein function.
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).
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, Jan 2020).
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.
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.
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, Jan 2020).
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, Jan 2020).
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.
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, Jan 2020).
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, Jan 2020).
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.
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, Jan 2020).
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 all known functional domains (UniProt.org), R1449* is predicted to lead to a loss of Atm protein function.
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).
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, Jan 2020).
L1874F missense loss of function - predicted ATM L1874F does not lie within any known functional domains of the Atm protein (UniProt.org). L1874F is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
L1956H missense loss of function - predicted ATM L1956H lies within the FAT domain of the Atm protein (UniProt.org). L1956H is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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, Jan 2020).
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: 25589003), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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, Apr 2020).
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).
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).
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).
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).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2020).
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, Jan 2020).
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, Jan 2020).
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, Feb 2020).
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, Jan 2020).
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, Feb 2020).
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).
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, Feb 2020).
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, Jan 2020).
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).
L581V missense no effect - predicted ATM L581V does not lie within any known functional domains of the Atm protein (UniProt.org). L581V increases cell viability and proliferation in the presence of radiation to the same extent as wild-type Atm (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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.
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, Jan 2020).
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, Jan 2020).
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, Jan 2020).
loss unknown loss of function ATM loss indicates loss of the ATM gene, mRNA, and protein.
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, Jan 2020).
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, Feb 2020).
mutant unknown unknown ATM mutant indicates an unspecified mutation in the ATM gene.
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, Jan 2020).
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 leads to increased cell viability and proliferation in the presence of radiation to the same extent as wild-type Atm (PMID: 29059438), and therefore, its effect on Atm protein function is unknown.
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.
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, Jan 2020).
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 D2780A (PMID: 9733515), but has not been characterized individually and therefore, its effect on Atm protein function is unknown.
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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.
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, Feb 2020).
negative unknown loss of function ATM negative indicates a lack of the ATM gene, mRNA, and/or protein.
over exp none no effect ATM over exp indicates an over expression of the Atm protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
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).
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, Jan 2020).
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 Atm protein function is unknown (PubMed, Jan 2020).
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, Jan 2020).
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, Jan 2020).
P2699L missense loss of function ATM P2699L lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699L results in decreased protein expression and a loss of phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188).
P2699S missense unknown ATM P2699S lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699S is predicted to impair the kinase activity of Atm based on structural modeling (PMID: 21993670), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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).
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).
P604S missense loss of function - predicted ATM P604S does not lie within any known functional domains of the Atm protein (UniProt.org). P604S is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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 effects on Atm protein function is unknown (PubMed, Jan 2020).
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, Jan 2020).
P960H missense loss of function - predicted ATM P960H does not lie within any known functional domains of the Atm protein (UniProt.org). P960H is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
positive unknown unknown ATM positive indicates the presence of the ATM gene, mRNA, and/or protein.
Q1128R missense unknown ATM Q1128R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1128R has been identified in sequencing studies (PMID: 16014569, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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.
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, Jan 2020).
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 all known functional domains (UniProt.org), Q1579fs is predicted to lead to a loss of Atm protein function.
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 all known functional domains (UniProt.org), Q1636Rfs*10 is predicted to lead to a loss of Atm protein function.
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 all known functional domains (UniProt.org), Q1906* is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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 all known functional domains (UniProt.org), Q2297* is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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).
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, Jan 2020).
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, May 2020).
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, Jan 2020).
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 all known functional domains (UniProt.org), R1466* is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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).
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 all known functional domains (UniProt.org), R1618* is predicted to lead to a loss of Atm protein function.
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 all known functional domains (UniProt.org), R1730* is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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, Jan 2020).
R2032K missense unknown ATM R2032K lies within the FAT domain of the Atm protein (UniProt.org). R2032K results in aberrant splicing of ATM mRNA, leading to skipping of exon 43 (PMID: 9887333), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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 all known functional domains (UniProt.org), R2034* is predicted to lead to a loss of Atm protein function.
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.
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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 (PubMed, Feb 2020).
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, Feb 2020).
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.
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).
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, Feb 2020).
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).
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 protein kinase and FATC domains (UniProt.org), R2598* is predicted to lead to a loss of Atm protein function.
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, Jan 2020).
R2691C missense loss of function - predicted ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438), and is predicted to impair the kinase activity of Atm by structural modeling (PMID: 21993670).
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).
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 PI3K/PI4K protein kinase and FATC domains (UniProt.org), R2848* is predicted to lead to a loss of Atm protein function.
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).
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).
R3008H missense loss of function - predicted ATM R3008H does not lie within any known functional doamains of the Atm protein (UniProt.org). R3008H is predicted to confer a loss of function on the Atm protein, as demonstrated by failure to induce Tp53 target gene expression after DNA damage in patient-derived cells (PMID: 23585524).
R3047* nonsense loss of function ATM R3047* results in a premature truncation of the Atm protein at amino acid 3047 of 3056 (UniProt.org). R3047* 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).
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, Feb 2020).
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, Feb 2020).
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).
R45Q missense no effect - predicted ATM R45Q does not lie within any known functional domains of the Atm protein (UniProt.org). R45Q increases cell viability and proliferation in the presence of radiation to the same extent as wild-type Atm (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
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.
R832C missense unknown ATM R832C does not lie within any known functional domains of the Atm protein (UniProt.org). R832C has been identified in sequencing studies (PMID: 28769798, PMID: 21447618), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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.
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 2 protein kinase domains and the FATC domain (UniProt.org), S1403fs is predicted to lead to a loss of Atm function.
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 increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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).
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, Jan 2020).
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 the PI3K/PI4K domain and the FATC domain (UniProt.org), S2017f is predicted to lead to a loss of Atm protein function.
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).
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 the PI3K/PI4K protein kinase and FATC domains (UniProt.org), S2407* is predicted to lead to a loss of Atm protein function.
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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).
S2707C missense no effect - predicted ATM S2707C does not lie within any known functional domains of the Atm protein (UniProt.org). S2707C increases cell viability and proliferation in the presence of radiation to the same extent as wild-type Atm (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
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, Feb 2020).
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).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
S3027I missense unknown ATM S3027I lies within the FATC domain of the Atm protein (UniProt.org). S3027I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
S333F missense unknown ATM S333F does not lie within any known functional domains of the Atm protein (UniProt.org). S333F has been identified in sequencing studies (PMID: 28591191), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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.
S707P missense unknown ATM S707P does not lie within any known functional domains of the Atm protein (UniProt.org). S707P has been associated with modest increase of breast cancer risk by epidemiological analysis (PMID: 20826828), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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.
S824F missense loss of function - predicted ATM S824F does not lie within any known functional domains of the Atm protein (UniProt.org). S824F is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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, Jan 2020).
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, Jan 2020).
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 function.
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, Jan 2020).
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, Jan 2020).
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.
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, Feb 2020).
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).
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, Feb 2020).
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, Jan 2020).
T2031I missense no effect - predicted ATM T2031I lies within the FAT domain of the Atm protein (UniProt.org). T2031I increases cell viability and proliferation in the presence of radiation to the same extent as wild-type Atm (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
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).
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, Jan 2020).
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).
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, Jan 2020).
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).
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, Feb 2020).
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 all known functional domains (UniProt.org), V1538fs is predicted to lead to a loss of Atm protein function.
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, Jan 2020).
V1841I missense no effect - predicted ATM V1841I does not lie within any known functional domains of the Atm protein (UniProt.org). V1841I increases cell viability and proliferation in the presence of radiation to the same extent as wild-type Atm (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
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).
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 the PI3K/PI4K and FATC domains (UniProt.org), V2119fs is predicted to lead to a loss of Atm protein function.
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).
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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 function.
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, Jan 2020).
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, Feb 2020).
V519I missense loss of function - predicted ATM V519I does not lie within any known functional domains of the Atm protein (UniProt.org). V519I is predicted to confer a loss of function to the Atm protein, as demonstrated by increased radiosensitivity of cultured cells, as compared to Atm wild-type (PMID: 29059438).
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, Jan 2020).
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, Apr 2020).
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 all known functional domains (UniProt.org), W2104* is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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, Feb 2020).
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.
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.
wild-type none no effect Wild-type ATM indicates that no mutation has been detected within the ATM gene.
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, Feb 2020).
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).
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.
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 the PI3K/PI4K protein kinase and FATC domains (UniProt.org), Y2371* is predicted to lead to a loss of Atm protein function.
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, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).