G158V (p.Gly158Val) variant of MMUT (P22033)
G158V (p.Gly158Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The record also includes published literature and structural context.
G158V (p.Gly158Val) variant details
- p.Gly158Val
- UniProt VAR 022398
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms… (PMID 15643616)
- Cited in: mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion… (PMID 10923046)