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 | R659P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 R659P lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R659P confers a loss of function to the Mlh1 protein as demonstrated by a loss of mismatch repair activity (MMR) in in-vitro assays (PMID: 20020535, PMID: 21120944) and altered subcellular localization as compared to wild-type (PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 R659P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37048596G>C |
cDNA | c.1976G>C |
Protein | p.R659P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37048596G>C | c.1976G>C | p.R659P | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37048596G>C | c.1976G>C | p.R659P | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37048596G>C | c.1976G>C | p.R659P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|