PSTPIP1 (O43586) variants and mutations

PSTPIP1 (also known as O43586) is a human protein-coding gene encoding a proline-serine-threonine phosphatase-interacting protein 1 protein. It organizes cytoskeletal and inflammasome-associated protein interactions in myeloid cells and can influence pyrin-dependent inflammatory signaling. Gain-of-function variants cause PAPA syndrome and related PSTPIP1-associated autoinflammatory diseases with sterile arthritis and inflammatory skin lesions. This analysis covers 790 PSTPIP1 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis - pyoderma gangrenosum - acne, and hyperzincemia with functional zinc depletion. Example PSTPIP1 variants include M2I, M2T, and M2L.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable PSTPIP1 variants

Examples include M2I, M2T, M2L, P3H, P3S, P3L, P3P, P3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.