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Gene | MLH1 |
Variant | R522W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 R522W lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R522W results in intermediate protein expression compared to wild-type in culture but demonstrates mismatch repair activity similar to wild-type in an in vitro assay (PMID: 23403630), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R522W |
Transcript | NM_000249.4 |
gDNA | chr3:g.37040191C>T |
cDNA | c.1564C>T |
Protein | p.R522W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37040191C>T | c.1564C>T | p.R522W | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37040191C>T | c.1564C>T | p.R522W | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37040191C>T | c.1564C>T | p.R522W | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37040191C>T | c.1564C>T | p.R522W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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