NCF1 (Neutrophil cytosol factor 1) variants and mutations

NCF1 (also known as Neutrophil cytosol factor 1) is a human protein-coding gene encoding a neutrophil cytosol factor 1 protein. After phagocyte activation, it joins the NADPH oxidase complex to generate microbicidal reactive oxygen species. Biallelic loss-of-function variants cause chronic granulomatous disease with recurrent bacterial and fungal infections. This analysis covers 611 NCF1 variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes chronic granulomatous disease, atrial fibrillation, and neurodegenerative disease. Example NCF1 variants include G2R, R7H, and A10T.

Variant analysis overview

Gene: NCF1
Protein: Neutrophil cytosol factor 1
UniProt accession: P14598
Organism: Homo sapiens
Variants analyzed: 611
Variant scope: all variants
Completed: 2026-08-22

Variant and mutation evidence

Variant composition: 382 unspecified-consequence records; 128 missense variants; 63 synonymous variants; 17 frameshift variants; 5 splice-region variants; 7 stop-gained variants; 1 in-frame insertions; 6 in-frame deletions; 2 substitution
Prediction scores: 598 variants have prediction scores (98% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: chronic granulomatous disease, atrial fibrillation, neurodegenerative disease, Rare familial disorder with hypertrophic cardiomyopathy, hypertrophic cardiomyopathy 4, Increased blood pressure, hypertensive disorder, cardiovascular disorder, Abnormality of the skeletal system, type 2 diabetes mellitus, autoimmune disease, connective tissue disorder.

Protein structure and variant hotspots

Protein features: 3 domains; 6 post-translational modification sites.
Structural context: 451 variants have structural context.
PTM context: 4 variants overlap post-translational modification sites.
Experimental data: 66 protein positions have experimental scores. Source: NCF1 SH3 domain domainome 1.0.

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 NCF1 variants

Examples include G2R, R7H, A10T, A10D, A10G, L11L, R17C, R17H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

NCF1 analysis run — NCF1 (611 variants) — completed 2026-08-22