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 | I655V |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | MLH1 I655V lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). I655V results in mismatch repair activity comparable to wild-type Mlh1 in yeast assays and in an in vitro assay (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 I655V |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37048583A>G |
| cDNA | c.1963A>G |
| Protein | p.I655V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000249.4 | chr3:g.37048583A>G | c.1963A>G | p.I655V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|