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 gel, stained with AcquaStain, shows the individual proteins and resultant products.