Fig. 2.

Pedigree and genetic analysis of the core family (2a) and phylogenetic conservation of the cysteine 1518 in C3 (2b). a Perfect segregation of the C3 mutation (c. C4554G, p. Cys1518Trp) is shown in the patient and parents. Females are represented as circles and males as squares. Filled and half-filled symbols represent homozygous and heterozygous individuals, respectively. The point mutation is marked with a grey bar. The segregation in the siblings is not shown. b Phylogenetic conservation of the mutated amino acid in C3 in vertebrates. Cysteine 1518 is indicated with a red box