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Gene | MLH1 |
Variant | D132H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 D132H lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of D132H is conflicting as it results in stable expression of Mlh1 and Pms2 and mismatch repair activity comparable to wild-type in culture (PMID: 36054288), in yeast assays, and in an in vitro assay (PMID: 17510385) but results in reduced ATPase activity compared to wild-type in the context of an N-terminal Mlh1 construct (PMID: 15184898). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 D132H |
Transcript | NM_000249.4 |
gDNA | chr3:g.37007004G>C |
cDNA | c.394G>C |
Protein | p.D132H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265161.3 | chr3:g.37007004G>C | c.394G>C | p.D132H | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37007004G>C | c.394G>C | p.D132H | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37007004G>C | c.394G>C | p.D132H | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37007004G>C | c.394G>C | p.D132H | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37007004G>C | c.394G>C | p.D132H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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