MLH1 I219V
Gene Variant Detail

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Gene MLH1
Variant I219V
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 I219V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I219V is a common polymorphism with activity comparable to wild-type Mlh1 (PMID: 20020535) as demonstrated by functional mismatch repair activity in culture (PMID: 36054288) and in in vitro assays and protein expression comparable to wild-type Mlh1 (PMID: 21120944, PMID: 31881334, PMID: 23403630), and subcellular localization similar to wild-type (PMID: 21120944, PMID: 31881334).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 I219V

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Transcript NM_000249.4
gDNA chr3:g.37012077A>G
cDNA c.655A>G
Protein p.I219V
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.