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Gene | MLH1 |
Variant | H112D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 H112D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). H112D retains ATPase activity in in vitro analyses (PMID: 17135187, PMID: 29544212) leading to functional subcellular localization, recruitment to double strand breaks, ability to suppress interstitial telomeric sequences and genomic instability (PMID: 29544212) and retains binding to Pms2 but impairs interaction with Msh2-Msh6-DNA complex in culture and leads to loss of mismatch repair activity (MMR) in an in vitro analysis in one study (PMID: 17135187), but in another results in normal expression of Pms2 and Mlh1 and MMR activity comparable to wild-type in culture (PMID: 36054288), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 H112D |
Transcript | NM_000249.4 |
gDNA | chr3:g.37004428C>G |
cDNA | c.334C>G |
Protein | p.H112D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354630.2 | chr3:g.37004428C>G | c.334C>G | p.H112D | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37004428C>G | c.334C>G | p.H112D | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37004428C>G | c.334C>G | p.H112D | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37004428C>G | c.334C>G | p.H112D | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37004428C>G | c.334C>G | p.H112D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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