TLR3 (Toll-like receptor 3) variants and mutations

TLR3 (also known as Toll-like receptor 3) is a human protein-coding gene encoding a toll-like receptor 3 protein. It detects double-stranded RNA in endosomes and activates interferon and inflammatory programs important for antiviral defense. Loss-of-function variants can impair intrinsic immunity to herpes simplex virus in the central nervous system and predispose to herpes simplex encephalitis. This analysis covers 1,319 TLR3 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Herpetic encephalitis, hypothyroidism, and thyroid gland disorder. Example TLR3 variants include M1V, R2T, and T4A.

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 TLR3 variants

Examples include M1V, R2T, T4A, T4T, L5A, L5F, L5C, P6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.