SPTA1 (P02549) variants and mutations

SPTA1 (also known as P02549) is a human protein-coding gene encoding a spectrin alpha chain, erythrocytic 1 protein. It forms the alpha-spectrin lattice underlying the red-blood-cell membrane and provides elasticity needed to survive repeated passage through the circulation. Pathogenic variants cause hereditary elliptocytosis, hereditary spherocytosis, or severe hereditary pyropoikilocytosis. This analysis covers 4,239 SPTA1 variants and mutations. Of these, 63% have computational variant effect predictions. Disease context includes elliptocytosis 2, Pyropoikilocytosis, and hereditary spherocytosis type 3. Example SPTA1 variants include M1L, E2K, and E2V.

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

Notable SPTA1 variants

Examples include M1L, E2K, E2V, Q3K, Q3P, F4L, P5S, K6N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.