MLH1 Y750* - Gene Variant Detail

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Gene MLH1
Variant Y750*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 Y750* results in a premature truncation of the Mlh1 protein at amino acid 750 of 756 (UniProt.org). Y750* demonstrates expression levels similar to wild-type Mlh1 (PMID: 20533529) but results in a loss of the C-terminal domain, demonstrates decreased stability of the Mlh1/Pms2 heterodimer (PMID: 16338176), leads to reduced Pms2 expression in culture, and reduced mismatch repair activity in an in vitro assay (PMID: 20533529), 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 Y750*

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Transcript NM_000249.4
gDNA chr3:g.37050632C>A
cDNA c.2250C>A
Protein p.Y750*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37050632C>A c.2250C>A p.Y750* 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