Germline variants identified in patients with CAPS. The single-nucleotide variant location is provided, along with a schematic diagram of the CFHR3-CFHR1 deletion (identified in 3 patients). Exons are indicated as blocks. Short consensus repeats (SCRs) are numbered for both CR1 (C3b/C4b receptor) and CFHR4, with the most common isoforms shown. Binding sites for calcium, integrins, and complement proteins are also shown. Protein domains include LHR, long homologous repeat; TM, transmembrane domain; CR, cytoplasmic region; CLEC, C-type lectin domain; TIME, thrombomodulin EGF-like domain. Regulatory regions include SA, sialic acids; C3b thioester-containing domain (TED); MBL, mannose binding lectin; CA, cofactor activity; DAA, decayed accelerating activity; GAG, glycosaminoglycan.