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 | R9W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 R9W lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R9W results in stable expression of Pms2 and Mlh1 and mismatch repair (MMR) activity comparable to wild-type in culture in one study (PMID: 36054288), but in others demonstrates defective MMR activity in a functional screen in cultured mouse cells (PMID: 31784484), intermediate MMR activity in an in vitro assay, and decreased Mlh1 and Pms2 expression in cultured cells (PMID: 22736432), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R9W |
Transcript | NM_000249.4 |
gDNA | chr3:g.36993572C>T |
cDNA | c.25C>T |
Protein | p.R9W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354628.2 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36993572C>T | c.25C>T | p.R9W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|