TLR9 (Toll-like receptor 9) variants and mutations

TLR9 (also known as Toll-like receptor 9) is a human protein-coding gene encoding a toll-like receptor 9 protein. It detects unmethylated CpG-rich DNA in endosomes and activates innate immune and type I interferon responses. Dysregulated signaling can contribute to autoimmunity, while agonists and antagonists of the pathway are being developed for cancer and inflammatory disease. This analysis covers 1,506 TLR9 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes rheumatoid arthritis, malaria, and systemic lupus erythematosus. Example TLR9 variants include G2D, F3L, and R5C.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TLR9 variants

Examples include G2D, F3L, R5C, R5H, S6R, A7D, A7P, A7T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.