IRAK4 (Q9NWZ3) variants and mutations

IRAK4 (also known as Q9NWZ3) is a human protein-coding gene encoding an interleukin-1 receptor-associated kinase 4 protein. It relays proximal signals from most Toll-like receptors and IL-1-family receptors. Biallelic loss-of-function variants cause recurrent invasive pyogenic bacterial infections, particularly in childhood, because inflammatory responses to these receptors are severely impaired. This analysis covers 816 IRAK4 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency, immunodeficiency 67, and inborn error of immunity. Example IRAK4 variants include N2K, N2S, and K3Q.

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, ClinGen, MaveDB, LitVar.

Notable IRAK4 variants

Examples include N2K, N2S, K3Q, P4L, P4P, I5M, I5V, I5*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.