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Gene MLH1
Variant S406N
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 S406N does not lie within any known functional domains of the Mlh1 protein (UniProt.org). S406N is a common polymorphism (PMID: 12810663, PMID: 17510385) and results in binding to Pms2 and Exo1 comparable to wild-type in a yeast two hybrid assay (PMID: 12810663), Mlh1 and Pms2 expression similar to wild-type Mlh1 in culture, mismatch repair activity comparable to wild-type in culture (PMID: 36054288), in yeast assays, and in in vitro assays (PMID: 17510385, PMID: 20020535), a mutation rate similar to wild-type in one of two yeast assays (PMID: 17210669), and microsatellite stability in a patient sample (PMID: 18033691).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 S406N

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Transcript NM_000249.4
gDNA chr3:g.37025815G>A
cDNA c.1217G>A
Protein p.S406N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37025815G>A c.1217G>A p.S406N RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37025815G>A c.1217G>A p.S406N RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37025815G>A c.1217G>A p.S406N RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37025815G>A c.1217G>A p.S406N 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries