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Gene | MLH1 |
Variant | R497Gfs*11 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 R497Gfs*11 indicates a shift in the reading frame starting at amino acid 497 and terminating 11 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), R497Gfs*11 is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 R497Gfs*11 |
Transcript | NM_000249.4 |
gDNA | chr3:g.37028863delC |
cDNA | c.1489delC |
Protein | p.R497Gfs*11 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354630.1 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37028863delC | c.1489delC | p.R497Gfs*11 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 R497Gfs*11 | loss of function - predicted |