Gene Variant Detail

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Gene MLH1
Variant E633Kfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E633Kfs*4 indicates a shift in the reading frame starting at amino acid 633 and terminating four residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). E633Kfs*4 results in loss of interaction with Pms2 and Exo1 in a yeast-two-hybrid assay, reduced Pms2 expression in an in vitro assay (PMID: 12810663), and due to loss of the C-terminal domain (PMID: 16338176), is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 E633Kfs*4

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Transcript NM_000249.4
gDNA chr3:g.37048517delG
cDNA c.1897delG
Protein p.E633Kfs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048517delG c.1897delG p.E633Kfs*4 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 E633Kfs*4 loss of function - predicted