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Gene MLH1
Variant L550P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 L550P lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of L550P is conflicting, as it results in a loss of mismatch repair activity in an in vitro assay (PMID: 20020535) and in cell culture (PMID: 31784484), but also demonstrates mismatch repair activity, localization, and protein expression to similar levels as wild-type Mlh1 in culture (PMID: 16083711, PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 L550P

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Transcript NM_000249.4
gDNA chr3:g.37040276T>C
cDNA c.1649T>C
Protein p.L550P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_000249 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37040276T>C c.1649T>C p.L550P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37040276T>C c.1649T>C p.L550P 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries