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Gene MLH1
Variant R226L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 R226L lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R226L results in reduced mismatch repair activity in two of three yeast assays and in an in vitro assay (PMID: 17510385) and demonstrates aberrant MLH1 splicing (PMID: 15300854), 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 R226L

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Transcript NM_000249.4
gDNA chr3:g.37012099G>T
cDNA c.677G>T
Protein p.R226L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37012099G>T c.677G>T p.R226L RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37012099G>T c.677G>T p.R226L RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37012099G>T c.677G>T p.R226L RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37012099G>T c.677G>T p.R226L RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37012099G>T c.677G>T p.R226L RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Protein Effect Treatment Approaches
MLH1 R226L loss of function - predicted