NLRP3 (Q96P20) variants and mutations

NLRP3 (also known as Q96P20) is a human protein-coding gene encoding a NACHT, LRR and PYD domains-containing protein 3 protein. It assembles a widely used inflammasome in response to diverse danger signals, driving caspase-1 activation and release of IL-1beta and IL-18. Gain-of-function variants cause cryopyrin-associated periodic syndromes, while excessive activation contributes to common inflammatory diseases. This analysis covers 202 NLRP3 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes CINCA syndrome, Muckle-Wells syndrome, and familial cold autoinflammatory syndrome 1. Example NLRP3 variants include A4T, A4V, and A4E.

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, MaveDB, LitVar.

Notable NLRP3 variants

Examples include A4T, A4V, A4E, S5G, S5S, T6I, T6T, R7C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.