SHANK3 (Q9BYB0) variants and mutations

SHANK3 (also known as Q9BYB0) is a human protein-coding gene encoding a SH3 and multiple ankyrin repeat domains protein 3 protein. At excitatory synapses, it organizes glutamate receptors, signaling proteins, and the actin cytoskeleton. Haploinsufficiency causes Phelan-McDermid syndrome and is strongly associated with intellectual disability, severe speech impairment, and autism-related features. This analysis covers 275 SHANK3 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes Phelan-McDermid syndrome, Monosomy 22q13, and schizophrenia 15. Example SHANK3 variants include Q2S, Q2K, and Q2*.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SHANK3 variants

Examples include Q2S, Q2K, Q2*, Q2E, Q2L, Q2R, Q2Q, Q2H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.