D500E (p.Asp500Glu) variant of CYBB (NADPH oxidase 2)
D500E (p.Asp500Glu) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Granulomatous disease, chronic, X-linked. The record also includes published literature and structural context.
D500E (p.Asp500Glu) variant details
- p.Asp500Glu
- rs2519213323
- ClinGen CA412978422
- ClinVar RCV003050600
- UniProt VAR 068013
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of… (PMID 22125116)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)