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
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37001051G>A c.304G>A p.E102K RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37001051G>A c.304G>A p.E102K RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37001051G>A c.304G>A p.E102K RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37001051G>A c.304G>A p.E102K RefSeq GRCh38/hg38

Filtering

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References