C44Y (p.Cys44Tyr) variant of UBE3A (Ubiquitin-protein ligase E3A)
C44Y (p.Cys44Tyr) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. The record also includes experimental measurements, published literature, and structural context.
C44Y (p.Cys44Tyr) variant details
- p.Cys44Tyr
- UniProt VAR 007852
- Missense
- Structural context available
- UBE3A Ubiquitin-protein ligase E3A, N-terminal zinc-binding domain domainome 1.0: score 0.131
- Cited in: De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. (PMID 8988172)