PADI4 (Q9UM07) variants and mutations

PADI4 (also known as Q9UM07) is a human protein-coding gene encoding a protein-arginine deiminase type-4 protein. It converts arginine residues in proteins to citrulline, altering charge and protein interactions during processes such as neutrophil extracellular-trap formation. Genetic variation and excessive citrullination are strongly linked to rheumatoid arthritis and autoantibody formation. This analysis covers 1,083 PADI4 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes rheumatoid arthritis, Abnormal pulmonary interstitial morphology, and neurodegenerative disease. Example PADI4 variants include A2T, A2G, and A2V.

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 PADI4 variants

Examples include A2T, A2G, A2V, A2A, Q3*, Q3L, Q3Q, G4E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.