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 Symbol | MLH1 | ||||||||||
Synonyms | COCA2 | FCC2 | hMLH1 | HNPCC | HNPCC2 | LYNCH2 | MLH-1 | MMRCS1 | ||||||||||
Gene Description | MLH1, mutL homolog 1, is a tumor suppressor (PMID: 30562755) that dimerizes with Pms2 to form a component of the DNA mismatch repair (MMR) system (PMID: 16873062), and is associated with microsatellite instability (MSI) (PMID: 30121009) and genomic stability (PMID: 31747945). MLH1 promoter hypermethylation, resulting in Mlh1 deficiency, is frequently associated with sporadic colorectal, gastric, and esophageal cancers (PMID: 23555617, PMID: 21988782, PMID: 28224663, PMID: 28454461), and germline MLH1 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792). | ||||||||||
ACMG Incidental List v3.0: |
|
||||||||||
|
Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
---|---|---|---|---|
E178fs | frameshift | loss of function - predicted | MLH1 E178fs results in a change in the amino acid sequence of the Mlh1 protein beginning at aa 178 of 756, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), E178fs is predicted to lead to a loss of Mlh1 protein function. | |
inact mut | unknown | loss of function | MLH1 inact mut indicates that this variant results in a loss of function of the Mlh1 protein. However, the specific amino acid change has not been identified. | |
mutant | unknown | unknown | MLH1 mutant indicates an unspecified mutation in the MLH1 gene. |