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Gene | MLH1 |
Variant | T662P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 T662P lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). T662P results in decreased protein expression of Mlh1 (PMID: 23403630, PMID: 20533529) and Pms2 in culture (PMID: 20533529) and loss of mismatch repair (MMR) activity in yeast assays (PMID: 17510385) but demonstrates MMR activity comparable to wild-type in in vitro assays (PMID: 23403630, PMID: 17510385, PMID: 20533529), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 T662P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37048604A>C |
cDNA | c.1984A>C |
Protein | p.T662P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37048604A>C | c.1984A>C | p.T662P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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