MLH1 R659P
Gene Variant Detail

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Gene MLH1
Variant R659P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 R659P lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R659P confers a loss of function to the Mlh1 protein as demonstrated by a loss of mismatch repair activity (MMR) in in vitro assays (PMID: 20020535, PMID: 21120944) and altered subcellular localization compared to wild-type Mlh1 in culture (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 R659P

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Transcript NM_000249.4
gDNA chr3:g.37048596G>C
cDNA c.1976G>C
Protein p.R659P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37048596G>C c.1976G>C p.R659P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37048596G>C c.1976G>C p.R659P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048596G>C c.1976G>C p.R659P 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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