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Gene MLH1
Variant L749P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 L749P does not lie within any known functional domains of the Mlh1 protein (UniProt.org). L749P confers a loss of function to the Mlh1 protein as demonstrated by protein loss via immunostaining, inefficient mismatch repair activity (PMID: 14504054, PMID: 20533529), and has also been reported to have decreased protein expression (PMID: 21286667).
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_000249.3 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 chr3:g.37050628T>C c.2246T>C p.L749P RefSeq GRCh38/hg38

Filtering

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  • 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