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Gene MLH1
Variant L582F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 L582F lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L582F results in impaired mismatch repair activity (MMR) in an in vitro assay (PMID: 20020535), and decreased binding to Pms2 and Exo1 in yeast two-hybrid assays (PMID: 12810663), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 L582F

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Transcript NM_000249.4
gDNA chr3:g.37047531C>T
cDNA c.1744C>T
Protein p.L582F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37047630_37047632delCTGinsTTT c.1744_1746delCTGinsTTT p.L582F RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37047630_37047632delCTGinsTTT c.1744_1746delCTGinsTTT p.L582F RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37047630_37047632delCTGinsTTT c.1744_1746delCTGinsTTT p.L582F RefSeq GRCh38/hg38
NM_000249 chr3:g.37047531C>T c.1744C>T p.L582F RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References