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Gene | MLH1 |
Variant | N551T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 N551T lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). N551T results in decreased Mlh1 protein stability and expression (PMID: 23403630), and decreased mismatch repair activity in culture in one study (PMID: 31784484), but also demonstrates mismatch repair activity comparable to wild-type Mlh1 in other studies (PMID: 17510385, PMID: 23403630), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 N551T |
Transcript | NM_000249.4 |
gDNA | chr3:g.37040279A>C |
cDNA | c.1652A>C |
Protein | p.N551T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354628.2 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37040279A>C | c.1652A>C | p.N551T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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