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Gene | MLH1 |
Variant | R474Q |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MLH1 R474Q lies within the EXO1-interacting region and bipartite NLS sequence of the Mlh1 protein (PMID: 22753075). R474Q results in Mlh1 and Pms2 expression similar to wild-type Mlh1 in culture, mismatch repair activity comparable to wild-type in culture (PMID: 36054288), in yeast assays, and in an in vitro assay (PMID: 17510385), and retains methylation sensitivity in culture (PMID: 30998989). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R474Q |
Transcript | NM_000249.4 |
gDNA | chr3:g.37028795G>A |
cDNA | c.1421G>A |
Protein | p.R474Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37028795G>A | c.1421G>A | p.R474Q | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37028795G>A | c.1421G>A | p.R474Q | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37028795G>A | c.1421G>A | p.R474Q | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37028795G>A | c.1421G>A | p.R474Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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