TLR4 (Toll-like receptor 4) variants and mutations

TLR4 (also known as Toll-like receptor 4) is a human protein-coding gene encoding a toll-like receptor 4 protein. It detects bacterial lipopolysaccharide with accessory proteins and activates NF-kappaB and interferon signaling during innate immune responses. Excessive activation contributes to septic inflammation and chronic inflammatory disease, while common variants can modify responses to microbial stimuli. This analysis covers 1,745 TLR4 variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes major depressive disorder, type 2 diabetes mellitus, and Sepsis. Example TLR4 variants include M1?, M2I, and S3T.

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 TLR4 variants

Examples include M1?, M2I, S3T, A4V, A4S, A4A, S5L, S5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.