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 | R100Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 R100Q lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R100Q results in Mlh1 and Pms2 expression comparable to wild-type Mlh1 but leads to reduced mismatch repair activity in culture (PMID: 36054288) and in a yeast assay (PMID: 15475387). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 R100Q |
Transcript | NM_000249.4 |
gDNA | chr3:g.37001046G>A |
cDNA | c.299G>A |
Protein | p.R100Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37001046G>A | c.299G>A | p.R100Q | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37001046G>A | c.299G>A | p.R100Q | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37001046G>A | c.299G>A | p.R100Q | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37001046G>A | c.299G>A | p.R100Q | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37001046G>A | c.299G>A | p.R100Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|