Gene Variant Detail

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Gene MLH1
Variant L676P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 L676P lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L676P retains subcellular localization and interaction with Pms2 comparable to wild-type (PMID: 26437257) but demonstrates decreased protein expression compared to wild-type in culture and decreased mismatch repair activity in an in vitro assay (PMID: 29520894), 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 L676P

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Transcript NM_000249.4
gDNA chr3:g.37048941T>C
cDNA c.2027T>C
Protein p.L676P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048941T>C c.2027T>C p.L676P 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 Protein Effect Treatment Approaches
MLH1 L676P loss of function - predicted