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Gene MLH1
Variant A589D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 A589D lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of A589D is conflicting, as it has been reported to result in a loss of mismatch repair activity in one study (PMID: 20020535), but in another study to have proficient mismatch repair activity in in vitro assays (PMID: 16083711), and demonstrates altered subcellular localization and reduced protein expression compared to wild-type Mlh1 (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 A589D

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Transcript NM_000249.4
gDNA chr3:g.37047553C>A
cDNA c.1766C>A
Protein p.A589D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_000249 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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