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Gene MLH1
Variant L73P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 L73P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). L73P demonstrates no splicing defects (PMID: 36054288) and does not alter subcellular localization of Mlh1 and Pms2 (PMID: 22736432) but leads to reduced Mlh1 and Pms2 expression in culture (PMID: 36054288, PMID: 22736432), decreased mismatch repair activity compared to wild-type Mlh1 in culture (PMID: 36054288), in a yeast assay (PMID: 15475387), and in an in vitro analysis, and is associated with microsatellite instability in a patient sample (PMID: 22736432).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 L73P

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Transcript NM_000249.4
gDNA chr3:g.37000965T>C
cDNA c.218T>C
Protein p.L73P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.37000965T>C c.218T>C p.L73P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37000965T>C c.218T>C p.L73P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37000965T>C c.218T>C p.L73P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37000965T>C c.218T>C p.L73P RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37000965T>C c.218T>C p.L73P 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