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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 |
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 |
---|---|---|---|---|---|
XM_005265161.3 | 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_001354630.2 | 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 |
NM_001354628.2 | chr3:g.37000965T>C | c.218T>C | p.L73P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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