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Gene | MLH1 |
Variant | L549P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 L549P lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L549P results in defective mismatch repair (MMR) activity in a functional screen in cultured mouse cells (PMID: 31784484) and loss of Pms2 binding in a yeast two-hybrid assay (PMID: 18094436). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 L549P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37040273T>C |
cDNA | c.1646T>C |
Protein | p.L549P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.37047532T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
XM_047448152.1 | chr3:g.37047532T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.37047532T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37040273T>C | c.1646T>C | p.L549P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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