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Gene | MLH1 |
Variant | R498Efs*5 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 R498Efs*5 indicates a shift in the reading frame starting at amino acid 498 and terminating five residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). R498Efs*5 results in loss of interaction with Pms2 and Exo1 in a yeast-two-hybrid assay, reduced Pms2 expression in an in vitro assay (PMID: 12810663), and due to loss of the C-terminal domain (PMID: 16338176), is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 R498Efs*5 |
Transcript | NM_000249.4 |
gDNA | chr3:g.37028865dupG |
cDNA | c.1491dupG |
Protein | p.R498Efs*5 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37028865dupG | c.1491dupG | p.R498Efs*5 | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37028865dupG | c.1491dupG | p.R498Efs*5 | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37028865dupG | c.1491dupG | p.R498Efs*5 | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37028865dupG | c.1491dupG | p.R498Efs*5 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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