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Gene | MLH1 |
Variant | L550P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 L550P lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of L550P is conflicting, as it results in a loss of mismatch repair activity in an in vitro assay (PMID: 20020535) and in cell culture (PMID: 31784484), but also demonstrates mismatch repair activity, localization, and protein expression to similar levels as wild-type Mlh1 in culture (PMID: 16083711, PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 L550P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37040276T>C |
cDNA | c.1649T>C |
Protein | p.L550P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37040276T>C | c.1649T>C | p.L550P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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