G454E (p.Gly454Glu) variant of MMUT (P22033)
G454E (p.Gly454Glu) 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 complete methylmalonyl-CoA mutase deficiency. The record also includes published literature and structural context.
G454E (p.Gly454Glu) variant details
- p.Gly454Glu
- UniProt VAR 075388
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Missense
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of… (PMID 17113806)
- Cited in: Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. (PMID 22727635)