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Gene | ATM |
Variant | I1453fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM I1453fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1453 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I1453fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1453 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM I1453fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108289721_108289722) |
cDNA | c.(4357_4356) |
Protein | p.I1453fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843.5 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108289721_108289722) | c.(4357_4356) | p.I1453fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM I1453fs | loss of function - predicted | Olaparib |