NLRP1 (Q9C000) variants and mutations

NLRP1 (also known as Q9C000) is a human protein-coding gene encoding a NACHT, LRR and PYD domains-containing protein 1 protein. It can assemble an inflammasome that activates caspase-1 and inflammatory cytokines in response to cellular danger, with prominent functions in skin and epithelial immunity. Gain-of-function variants cause autoinflammatory skin syndromes and can increase susceptibility to inflammatory disease. This analysis covers 2,168 NLRP1 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyske, autoinflammation with arthritis and dyskeratosis, and Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryng. Example NLRP1 variants include A2V, G3S, and G4A.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable NLRP1 variants

Examples include A2V, G3S, G4A, G4R, A5G, A5S, W6C, W6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.