MLH1 E102K
Gene Variant Detail

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Gene MLH1
Variant E102K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E102K lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E102K retains mismatch repair (MMR) activity in yeast assays (PMID: 17510385) but results in loss of protein expression compared to wild-type in culture (PMID: 23403630), decreased MMR activity in in vitro assays (PMID: 23403630, PMID: 17510385), and aberrant splicing in patient cells (PMID: 12183410), 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 E102K

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Transcript NM_000249.4
gDNA chr3:g.37001051G>A
cDNA c.304G>A
Protein p.E102K
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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