MLH1 P581L
Gene Variant Detail

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Gene MLH1
Variant P581L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 P581L lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P581L results in decreased Pms2 binding in a yeast two-hybrid assay in one study (PMID: 18094436), but Pm2 binding similar to wild-type in another yeast two-hybrid assay (PMID: 30504929) and demonstrates mismatch repair activity similar to wild-type Mlh1 in cultured cells (PMID: 31784484) and in an in vitro assay (PMID: 30504929), and retains nuclear localization (PMID: 30504929), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 P581L

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Transcript NM_000249.4
gDNA chr3:g.37047529C>T
cDNA c.1742C>T
Protein p.P581L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37047529C>T c.1742C>T p.P581L RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047529C>T c.1742C>T p.P581L RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047529C>T c.1742C>T p.P581L RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047529C>T c.1742C>T p.P581L RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047529C>T c.1742C>T p.P581L RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047529C>T c.1742C>T p.P581L RefSeq GRCh38/hg38

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