MLH1 H112D
Gene Variant Detail

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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

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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_001258271.2 chr3:g.37004428C>G c.334C>G p.H112D RefSeq GRCh38/hg38
NM_001354630.2 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
NM_001354628.2 chr3:g.37004428C>G c.334C>G p.H112D RefSeq GRCh38/hg38

Filtering

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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