Y169D (p.Tyr169Asp) variant of MCCC2 (Q9HCC0)
Y169D (p.Tyr169Asp) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency. The record also includes published literature and structural context.
Y169D (p.Tyr169Asp) variant details
- p.Tyr169Asp
- UniProt VAR 072514
- Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency
- Missense
- ClinVar: Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Structural context available
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)