S372P (p.Ser372Pro) variant of UBE3A (Ubiquitin-protein ligase E3A)
S372P (p.Ser372Pro) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. The record also includes published literature.
S372P (p.Ser372Pro) variant details
- p.Ser372Pro
- UniProt VAR 008143
- Missense
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)