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Gene | MLH1 |
Variant | G244D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 G244D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). G244D results in ATPase activity, accumulation at double-stranded DNA breaks, and micronuclei formation similar to wild-type Mlh1 in cell culture (PMID: 29544212), but decreased mismatch repair (MMR) activity in in vitro assays (PMID: 17510385, PMID: 11781295), loss of interaction with Pms2 and Exo1 in yeast two-hybrid assays and loss of repression activity in a yeast reporter 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 G244D |
Transcript | NM_000249.4 |
gDNA | chr3:g.37014485G>A |
cDNA | c.731G>A |
Protein | p.G244D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354630.2 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354624.1 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354627.2 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354627.1 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354626.1 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354625.2 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354625.1 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354624.2 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354626.2 | chr3:g.37047592G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37014485G>A | c.731G>A | p.G244D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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