SPTBN2 (O15020) variants and mutations

SPTBN2 (also known as O15020) is a human protein-coding gene encoding a spectrin beta chain, non-erythrocytic 2 protein. It organizes the neuronal membrane cytoskeleton and is particularly important for Purkinje-cell structure and signaling in the cerebellum. Dominant variants cause spinocerebellar ataxia type 5 or early-onset developmental ataxia, while biallelic variants can cause a more severe SCAR phenotype. This analysis covers 3,169 SPTBN2 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes spinocerebellar ataxia type 5, autosomal recessive spinocerebellar ataxia 14, and Spectrin-associated autosomal recessive cerebellar ataxia. Example SPTBN2 variants include S2R, T4A, and T4K.

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 SPTBN2 variants

Examples include S2R, T4A, T4K, T4M, S6L, S6T, P7L, T8A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.