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 | N551S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 N551S lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). N551S results in splicing similar to wild-type Mlh1 and proficient mismatch repair activity in an in vitro assay (PMID: 32849802), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 N551S |
Transcript | NM_000249.4 |
gDNA | chr3:g.37040279A>G |
cDNA | c.1652A>G |
Protein | p.N551S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |