P35L (p.Pro35Leu) variant of CYP17A1 (P05093)
P35L (p.Pro35Leu) in CYP17A1 (P05093) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AH5. The record also includes published literature and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- UniProt VAR 022745
- Pathogenic
- in AH5
- Missense
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Structural context available
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)
- Cited in: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. (PMID 11549685)