LRP4 (O75096) variants and mutations

LRP4 (also known as O75096) is a human protein-coding gene encoding a low-density lipoprotein receptor-related protein 4 protein. It coordinates Wnt-related developmental signaling and serves as the agrin coreceptor that activates MuSK at the neuromuscular junction. Biallelic or dominant pathogenic variants can cause syndactyly, Cenani-Lenz syndactyly syndrome, or congenital myasthenic syndrome depending on the mechanism. This analysis covers 2,287 LRP4 variants and mutations. Of these, 50% have computational variant effect predictions. Disease context includes Cenani-Lenz syndactyly syndrome, sclerosteosis 2, and Cenani-Lenz syndrome. Example LRP4 variants include R2K, R2S, and R3W.

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, ClinGen, MaveDB, LitVar.

Notable LRP4 variants

Examples include R2K, R2S, R3W, Q4L, Q4P, W5R, A7T, L8P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.