CYBB (NADPH oxidase 2) variants and mutations

CYBB (also known as NADPH oxidase 2) is a human protein-coding gene encoding a NADPH oxidase 2 protein. It generates the catalytic electron flow that allows phagocytes to produce microbicidal reactive oxygen species during the respiratory burst. Loss-of-function variants cause X-linked chronic granulomatous disease with severe susceptibility to bacterial and fungal infection. This analysis covers 743 CYBB variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes chronic granulomatous disease, neurodegenerative disease, and hereditary disease. Example CYBB variants include M1?, M1I, and M1V.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CYBB variants

Examples include M1?, M1I, M1V, G2G, N3T, W4*, W4R, V6A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.