TLR7 (Toll-like receptor 7) variants and mutations

TLR7 (also known as Toll-like receptor 7) is a human protein-coding gene encoding a toll-like receptor 7 protein. It detects single-stranded viral RNA in endosomes and drives type I interferon and inflammatory responses, particularly in plasmacytoid dendritic cells and B cells. Loss-of-function variants can predispose to severe viral infection, whereas gain-of-function variants cause immune dysregulation and autoimmunity. This analysis covers 1,228 TLR7 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes systemic lupus erythematosus, rheumatoid arthritis, and immunodeficiency 74, COVID-19-related, X-linked. Example TLR7 variants include V2M, V2L, and V2E.

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 TLR7 variants

Examples include V2M, V2L, V2E, V2V, F3L, P4L, P4T, M5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.