MLH1 I330del
Gene Variant Detail

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Gene MLH1
Variant I330del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions MLH1 I330del results in the deletion of an amino acid in the ATPase domain of the Mlh1 protein at amino acid 330 (PMID: 22753075). I330del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, altered subcellular localization, and decreased protein expression compared to wild-type in culture (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 I330del

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Transcript NM_000249.4
gDNA chr3:g.37020413_37020415delATC
cDNA c.988_990delATC
Protein p.I330delI
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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.