ACAN (Aggrecan core protein) variants and mutations

ACAN (also known as Aggrecan core protein) is a human protein-coding gene encoding an aggrecan core protein. Its highly charged glycosaminoglycan-rich structure enables cartilage to retain water and resist compressive forces, making it essential for growth-plate and articular-cartilage mechanics. Pathogenic variants can cause short-stature and skeletal-dysplasia phenotypes, including spondyloepimetaphyseal dysplasia and familial osteochondritis dissecans. This analysis covers 3,035 ACAN variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes spondyloepimetaphyseal dysplasia, aggrecan type, Familial osteochondritis dissecans, and spondyloepiphyseal dysplasia, Kimberley type. Example ACAN variants include M1I, T2I, and T2T.

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, MaveDB, LitVar.

Notable ACAN variants

Examples include M1I, T2I, T2T, T3I, T3N, T3A, T3T, L4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.