MUSK (O15146) variants and mutations

MUSK (also known as O15146) is a human protein-coding gene encoding a muscle, skeletal receptor tyrosine-protein kinase protein. It organizes the postsynaptic neuromuscular junction by responding to agrin-LRP4 signaling and clustering acetylcholine receptors. Biallelic pathogenic variants cause congenital myasthenic syndrome, while autoantibodies against MuSK cause an important subtype of acquired myasthenia gravis. This analysis covers 1,398 MUSK variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes Congenital myasthenic syndromes, fetal akinesia deformation sequence 1, and congenital myasthenic syndrome 9. Example MUSK variants include M1T, R2S, and R2T.

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 MUSK variants

Examples include M1T, R2S, R2T, E3G, E3K, E3Q, E3V, L4F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.