MLH1 E71del
Gene Variant Detail

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Gene MLH1
Variant E71del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E71del results in the deletion of an amino acid within the ATPase domain of the Mlh1 protein at amino acid 71 (PMID: 22753075). E71del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay and decreased protein expression compared to wild-type in culture (PMID: 21120944), and therefore, is predicted to lead a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 E71del

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Transcript NM_000249.4
gDNA chr3:g.37000960_37000962delAGA
cDNA c.213_215delAGA
Protein p.E71delE
Source Database RefSeq
Genome Build 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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