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Gene | MLH1 |
Variant | L582F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 L582F lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L582F results in impaired mismatch repair activity (MMR) in an in vitro assay (PMID: 20020535), and decreased binding to Pms2 and Exo1 in yeast two-hybrid assays (PMID: 12810663), and therefore, is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 L582F |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047531C>T |
cDNA | c.1744C>T |
Protein | p.L582F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354628.2 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.37047630_37047632delCTGinsTTT | c.1744_1746delCTGinsTTT | p.L582F | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.37047630_37047632delCTGinsTTT | c.1744_1746delCTGinsTTT | p.L582F | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
XM_047448152.1 | chr3:g.37047630_37047632delCTGinsTTT | c.1744_1746delCTGinsTTT | p.L582F | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37047531C>T | c.1744C>T | p.L582F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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