MLH1 S247P
Gene Variant Detail

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Gene MLH1
Variant S247P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 S247P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S247P results in stable Mlh1 and Pms2 expression but confers a loss of function to the Mlh1 protein as demonstrated by reduced mismatch repair activity in culture (PMID: 36054288) and in an in vitro assay (PMID: 16083711), altered subcellular localization, and reduced protein expression compared to wild-type Mlh1 in culture (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 S247P

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Transcript NM_000249.4
gDNA chr3:g.37014493T>C
cDNA c.739T>C
Protein p.S247P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_000249 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37014493T>C c.739T>C p.S247P 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

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Molecular Profile Protein Effect Treatment Approaches
MLH1 S247P loss of function