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Gene MLH1
Variant I565F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 I565F lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). I565F results in Mlh1 expression but loss of Msh2 and Msh6 expression in patient samples (PMID: 15943554) and reduced mismatch repair activity in yeast assays and in an in vitro assay (PMID: 17510385), 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 I565F

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Transcript NM_000249.4
gDNA chr3:g.37042293A>T
cDNA c.1693A>T
Protein p.I565F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37042293A>T c.1693A>T p.I565F RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37042293A>T c.1693A>T p.I565F RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37042293A>T c.1693A>T p.I565F RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37042293A>T c.1693A>T p.I565F 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 Protein Effect Treatment Approaches
MLH1 I565F loss of function - predicted