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Gene | MLH1 |
Variant | L582V |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 L582V lies within the EXO1-interacting region and C-terminal dimerization domain of the MLH1 protein (PMID: 22753075). L582V results in repression activity similar to wild-type Mlh1 in a yeast reporter assay, but results in decreased Exo1 and Pms2 interaction in a yeast two-hybrid assay, decreased Pms2 binding in an in vitro assay (PMID: 12810663), and decreased MMR activity in an in vitro assay (PMID: 17510385), 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 L582V |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047531C>G |
cDNA | c.1744C>G |
Protein | p.L582V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047448152.1 | chr3:g.37047630C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37047531C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37047531C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.37047630C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37047531C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047531C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37047531C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37047531C>G | c.1744C>G | p.L582V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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