MLH1 L749P - Gene Variant Detail

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Gene MLH1
Variant L749P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 L749P does not lie within any known functional domains of the Mlh1 protein (UniProt.org). L749P results in expression levels similar to wild-type Mlh1 in culture in one study (PMID: 20533529) but in another study results in reduced Mlh1 expression in culture (PMID: 22736432), and results in decreased Pms2 expression and deficient mismatch repair (MMR) activity in cultured cells (PMID: 20533529, PMID: 22736432), 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 L749P

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Transcript NM_000249.4
gDNA chr3:g.37050628T>C
cDNA c.2246T>C
Protein p.L749P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37050628T>C c.2246T>C p.L749P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37050628T>C c.2246T>C p.L749P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37050628T>C c.2246T>C p.L749P 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