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 | S295G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 S295G lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S295G results in mismatch repair activity comparable to wild-type in two of three yeast assays and in an in vitro assay (PMID: 17510385), 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 S295G |
Transcript | NM_000249.4 |
gDNA | chr3:g.37017598A>G |
cDNA | c.883A>G |
Protein | p.S295G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354628.2 | chr3:g.37017598A>G | c.883A>G | p.S295G | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37017598A>G | c.883A>G | p.S295G | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37017598A>G | c.883A>G | p.S295G | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37017598A>G | c.883A>G | p.S295G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 S295G | unknown |