IL1B (Interleukin-1 beta) variants and mutations

IL1B (also known as Interleukin-1 beta) is a human protein-coding gene encoding an interleukin-1 beta protein. After inflammasome-mediated processing, it drives fever, leukocyte recruitment, and local inflammatory responses to infection or tissue damage. Excess production contributes to multiple autoinflammatory diseases and can be therapeutically suppressed by blocking IL-1 signaling. This analysis covers 546 IL1B variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes cryopyrin-associated periodic syndrome, Muckle-Wells syndrome, and gout. Example IL1B variants include E3K, V4I, and V4L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

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 IL1B variants

Examples include E3K, V4I, V4L, P5H, P5T, A8P, A8T, A8V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.