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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

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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_000249.3 chr3:g.37014485G>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
NM_001354627.1 chr3:g.37047592G>A c.731G>A p.G244D RefSeq GRCh38/hg38
NM_001354630.2 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_000249.4 chr3:g.37014485G>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_001354627.2 chr3:g.37047592G>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_001258271.2 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_001354625.1 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_001258271.1 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

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References