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Gene MLH1
Variant L729V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 L729V lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L729V results in interaction with Pms2 and Exo1 similar to wild-type in a yeast-two-hybrid assay (PMID: 12810663) and mismatch repair activity similar to wild-type in yeast assays and in an in vitro assay (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 L729V

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Transcript NM_000249.4
gDNA chr3:g.37050567C>G
cDNA c.2185C>G
Protein p.L729V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37050567C>G c.2185C>G p.L729V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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