FIG 1. Assessing the contribution of mutation R176P to AP dysfunction. A, Alternative
pathway hemolytic activity (AP50) assay assessing patient serum supplemented with
properdin (P), FB, or FD. B, The immediate family pedigree of the patient with the CFD
genotype, serum AP50, and serum FD concentrations displayed. D represents the WT allele
and d, the mutant allele (c. 602G> C). C, Thermal shift assay of WT and R176P FD. D, Serial
dilutions of recombinant WT or R176P FD were incubated with C3b and FB. The SDS-PAGE …