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Gene | MLH1 |
Variant | K618del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 K618del results in the deletion of an amino acid in the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein at amino acid 618 (PMID: 22753075). K618del (reported as K616del) results in altered subcellular localization, reduced protein expression compared to wild-type Mlh1 (PMID: 21120944), and reduced interaction with Pms2 and Exo1 in a yeast two-hybrid assay (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 K618del |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047639_37047641delAAG |
cDNA | c.1852_1854delAAG |
Protein | p.K618del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37047639_37047641delAAG | c.1852_1854delAAG | p.K618del | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37047639_37047641delAAG | c.1852_1854delAAG | p.K618del | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047639_37047641delAAG | c.1852_1854delAAG | p.K618del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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