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Gene | MLH1 |
Variant | R659Q |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MLH1 R659Q lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R659Q is predicted to be non-pathogenic based on in silico analyses of the Mlh1 protein and has no effect on mismatch repair activity (MMR) in-vitro (PMID: 22753075, PMID: 21120944) and has subcellular localization similar to wild-type (PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R659Q |
Transcript | NM_000249.4 |
gDNA | chr3:g.37048596G>A |
cDNA | c.1976G>A |
Protein | p.R659Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.37048596G>A | c.1976G>A | p.R659Q | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37048596G>A | c.1976G>A | p.R659Q | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37048596G>A | c.1976G>A | p.R659Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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