PTPN22 (Q9Y2R2) variants and mutations

PTPN22 (also known as Q9Y2R2) is a human protein-coding gene encoding a tyrosine-protein phosphatase non-receptor type 22 protein. It tunes antigen-receptor signaling thresholds in T and B cells and helps maintain immune tolerance. The common R620W variant is a major non-HLA genetic risk factor for several autoimmune diseases, including type 1 diabetes and rheumatoid arthritis. This analysis covers 9 PTPN22 variants and mutations. Of these, 44% have computational variant effect predictions. Disease context includes rheumatoid arthritis, systemic lupus erythematosus, and type 1 diabetes mellitus. Example PTPN22 variants include S35A, S201F, and R263Q.

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 PTPN22 variants

Examples include S35A, S201F, R263Q, R266W, S302L, S362C, P535X, R620W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.