NFKBIA (NF-kappa-B inhibitor alpha) variants and mutations

NFKBIA (also known as NF-kappa-B inhibitor alpha) is a human protein-coding gene encoding a NF-kappa-B inhibitor alpha protein. It sequesters NF-kappaB transcription factors in the cytoplasm until immune or stress signals trigger its degradation. Dominant gain-of-function variants that resist degradation can cause severe immunodeficiency with ectodermal abnormalities. This analysis covers 815 NFKBIA variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes ectodermal dysplasia and immunodeficiency 2, Hypohidrotic ectodermal dysplasia with immunodeficiency, and psoriasis. Example NFKBIA variants include M1I, M1T, and Q3*.

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 NFKBIA variants

Examples include M1I, M1T, Q3*, A4V, A5D, A5G, A5T, A5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.