Fig. 3.

Schematic diagram of the molecular structure of normal C7 (adapted from [6]) and the position of mutations described to date (numbered from 1 to 14), and the novel mutation found in our Spanish family (15). Mutations described previously: 1, G> A transition at 3′ acceptor site of intron 1 [8]; 2, R198Q [24]; 3, deletion of around 6·8 kbp including exons 7 and 8 [8–25]; 4, a G> A transversion at 5′ splice donor site of intron 7 [24,26]; 5, G357R [8]; 6, R499S [28]; 7, 1929delC [24]; 8, E631X [27]; 9, E660Q [24]; 10, R665H [24]; 11, 2137delTG or 2138delGT/2139delTG [17]; 12, C728X [17]; 13, 2350delG [24]; 14, T> C transversion at splice donor site of intron 16 [24,26]; 15, W183X (present case). Modules are designated according to the recommendations of a workshop [29], as follows: T1, thrombospondin, type 1; LA, LDL receptor, type A; EG, epidermal growth factor-like; CP, complement control protein; and FM, complement factor I, MAC proteins.