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Gene | ATM |
Variant | S49C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM S49C does not lie within any known functional domains of the Atm protein (UniProt.org). S49C retains the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), results in similar cell survival upon treatment with DNA damaging agents to wild-type Atm, and retains the ability to phosphorylate some Atm targets, but leads to decreased phosphorylation of the Atm target CDC25A, and decreased HDR activity in cultured cells (PMID: 35354106), and therefore, its effect on Atm protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM S49C |
Transcript | NM_000051.4 |
gDNA | chr11:g.108227849C>G |
cDNA | c.146C>G |
Protein | p.S49C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790.2 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_001351835.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_047426979.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_001351836.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_001351835.2 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_047426977.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542842.3 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_047426978.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542842 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542842.4 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_001351836.2 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108227849C>G | c.146C>G | p.S49C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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