MEFV (Pyrin) variants and mutations

MEFV (also known as Pyrin) is a human protein-coding gene encoding a pyrin protein. Its pyrin inflammasome senses disruptions of cytoskeletal regulation and can activate IL-1beta-dependent inflammation. Pathogenic variants cause familial Mediterranean fever, with recurrent attacks of fever and serosal or joint inflammation. This analysis covers 1,702 MEFV variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes familial Mediterranean fever, autosomal recessive familial Mediterranean fever, and sweet syndrome. Example MEFV variants include M1L, A2G, and A2S.

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, ClinGen, MaveDB, LitVar.

Notable MEFV variants

Examples include M1L, A2G, A2S, A2T, A2V, K3E, K3N, T4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.