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Gene MLH1
Variant I219L
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 I219L lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I219L is a common polymorphism (PMID: 8872463, PMID: 16982745) with activity comparable to wild-type Mlh1, as demonstrated by binding to Pms2 and Exo1 comparable to wild-type in a yeast two hybrid assay (PMID: 12810663), interaction with Pms2 similar to wild-type in culture, sufficient mismatch repair (MMR) activity to provide methylation sensitivity in culture (PMID: 16982745), and MMR activity comparable to wild-type in yeast assays and in an in vitro assay (PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 I219L

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Transcript NM_000249.4
gDNA chr3:g.37012077A>C
cDNA c.655A>C
Protein p.I219L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37012077A>C c.655A>C p.I219L RefSeq 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References