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Gene MLH1
Variant L749*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions MLH1 L749* results in a premature truncation of the Mlh1 protein at amino acid 749 of 756 (UniProt.org). L749* results in a loss of the C-terminal domain and demonstrates decreased stability of the Mlh1/Pms2 heterodimer, increased mutation rates, and failure to induce cell-cycle arrest of drug-induced MLH1 L749*-expressing cells in culture (PMID: 16338176).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 L749*

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Transcript NM_000249.4
gDNA chr3:g.37050627_37050628delCTinsTA
cDNA c.2245_2246delCTinsTA
Protein p.L749*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37050627_37050628delCTinsTA c.2245_2246delCTinsTA p.L749* RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37050627_37050628delCTinsTA c.2245_2246delCTinsTA p.L749* RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37050627_37050628delCTinsTA c.2245_2246delCTinsTA p.L749* 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 )
  • 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")

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Molecular Profile Protein Effect Treatment Approaches
MLH1 L749* loss of function