Gene Variant Detail

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Gene MLH1
Variant K751R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 K751R does not lie within any known functional domains of the Mlh1 protein (UniProt.org). K751R results in Pms2 stabilization similar to wild-type Mlh1 (PMID: 16338176), a mutation rate comparable to wild-type in yeast assays (PMID: 17210669), and results in mismatch repair (MMR) activity similar to wild-type in an in vitro assay and yeast assays (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 K751R

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Transcript NM_000249.4
gDNA chr3:g.37050634A>G
cDNA c.2252A>G
Protein p.K751R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37050634A>G c.2252A>G p.K751R 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