T142A (p.Thr142Ala) variant of MMUT (P22033)
T142A (p.Thr142Ala) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The record also includes published literature and structural context.
T142A (p.Thr142Ala) variant details
- p.Thr142Ala
- rs2481347763
- ClinGen CA364404758
- ClinVar RCV003555284
- ClinVar RCV004819254
- Pathogenic
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- ClinVar: Pathogenic (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)