TLR8 (Toll-like receptor 8) variants and mutations

TLR8 (also known as Toll-like receptor 8) is a human protein-coding gene encoding a toll-like receptor 8 protein. It senses single-stranded RNA degradation products in endosomes of monocytes and other immune cells and promotes inflammatory cytokine production. Gain-of-function variants can cause immunodeficiency with neutropenia and dysregulated B-cell development. This analysis covers 1,253 TLR8 variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes immunodeficiency 98 with autoinflammation, X-linked, osteoarthritis, and autoimmune hemolytic anemia. Example TLR8 variants include M1?, M1V, and E2K.

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 TLR8 variants

Examples include M1?, M1V, E2K, E2E, N3K, N3N, M4I, M4K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.