Fig. 1.

Structure of the human C6 gene and protein showing location of selected mutations. Protein module designation: T1, thrombospondin type 1; LA, LDL receptor class A; MAC/PF, membrane attack complex (MAC)/perforin; EG, epidermal growth factor; CP, complement control protein; FM, Factor I-membrane attack proteins C6/C7. Solid arrows above the DNA sequence indicate deletions described by us previously and in this study and by others (in order from left to right): C291delC [17], 878delA (novel deletion reported here), 879delG [19], 1195delC [18], and 1936delG [17]. The inset shows point mutations and deletions in a region of exon 6. Base substitutions are indicated above the DNA sequence; the corresponding amino acid substitutions are indicated below the peptide sequence. D, Nucleotide deletion.