Fig E1.
Mutation R176P results in a type III FD deficiency. A, Chromatograms for the DNA sequence adjacent to position c.602 are shown for each member of the pedigree. The identified variant is rare: the Exome Aggregation Consortium's ExAC database reports mutation R176P (variant 19:861943 G/C) at an allele frequency of 1.049 × 10−4, with no homozygotes.E9B, Western blot analysis of FD in serum from the patient and healthy control. C, Secondary structural compositions of WT and R176P FD were evaluated using circular dichroism spectroscopy. D, Comparison of in vitro catalytic activity of recombinant WT, R176P, R176Q, and R176A FD in terms of FB cleavage. ***P < .001; ****P < .0001. E, Recombinant WT and R176P FD were tested for the ability to reconstitute AP50 when added to FD-depleted serum.