AGRN (Agrin) variants and mutations

AGRN (also known as Agrin) is a human protein-coding gene encoding an agrin protein. At the neuromuscular junction, it organizes postsynaptic differentiation by activating the LRP4-MuSK signaling pathway and clustering acetylcholine receptors. Biallelic or dominant pathogenic variants can cause congenital myasthenic syndromes with fatigable muscle weakness. This analysis covers 107 AGRN variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes congenital myasthenic syndrome 8, Congenital myasthenic syndromes, and Postsynaptic congenital myasthenic syndromes. Example AGRN variants include A2S, A2T, and A2P.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable AGRN variants

Examples include A2S, A2T, A2P, A2V, A2G, A2D, A2A, G3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.