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| Gene | MLH1 |
| Variant | M587V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MLH1 M587V lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (UniProt.org). M587V has been identified in sequencing studies (PMID: 18206535), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 M587V |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37047546A>G |
| cDNA | c.1759A>G |
| Protein | p.M587V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |