Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | MLH1 |
Variant | H733Qfs*14 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 H733Qfs*14 indicates a shift in the reading frame starting at amino acid 733 and terminating 14 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). H733Qfs*14 results in reduced Pms2 expression compared to wild-type Mlh1 in an in vitro assay, loss of interaction with Pms2 and Exo1 in a yeast-two-hybrid assay (PMID: 12810663), loss of Mlh1 and Pms2 expression, microsatellite instability in a patient sample (PMID: 31028081), and due to loss of the C-terminal domain (PMID: 16338176), is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 H733Qfs*14 |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050580_37050581insAAAA |
cDNA | c.2198_2199insAAAA |
Protein | p.H733Qfs*14 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37050580_37050581insAAAA | c.2198_2199insAAAA | p.H733Qfs*14 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|