IL1R1 (Interleukin-1 receptor type 1) variants and mutations

IL1R1 (also known as Interleukin-1 receptor type 1) is a human protein-coding gene encoding an interleukin-1 receptor type 1 protein. It transmits signals from IL-1alpha and IL-1beta to NF-kappaB and MAPK pathways, coordinating fever and inflammatory gene expression. Excess activation contributes to autoinflammatory and rheumatic disease, while receptor blockade can suppress IL-1-driven pathology. This analysis covers 753 IL1R1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes rheumatoid arthritis, Ascending aortic dissection, and asthma. Example IL1R1 variants include V3E, V3A, and L4F.

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 IL1R1 variants

Examples include V3E, V3A, L4F, L4L, L5I, L5L, R6G, R6R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.