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Gene MLH1
Variant A586D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 A586D lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). A586D results in reduced methylation sensitivity in culture (PMID: 30998989), 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 A586D

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Transcript NM_000249.4
gDNA chr3:g.37047544C>A
cDNA c.1757C>A
Protein p.A586D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37047544C>A c.1757C>A p.A586D RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047544C>A c.1757C>A p.A586D RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047544C>A c.1757C>A p.A586D RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries