N177D (p.Asn177Asp) variant of CYP17A1 (P05093)
N177D (p.Asn177Asp) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase. The record also includes published literature and structural context.
N177D (p.Asn177Asp) variant details
- p.Asn177Asp
- UniProt VAR 022749
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase)
- 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)