Fig. 1

Mutations present in b(0+)AT (SLC7A9) and rBAT (SLC3A1) in patients with cystinuria. Plots of the sequence of (a) b(0+)AT and (b) rBAT. For each protein the location of cystinuria associated mutations is shown (red circles) with the position of variants present in ExAC (blue circles). The conservation score is shown (grey line with values ranging from 1 to 9). The lower bar shows the protein secondary structure. c Total population allele frequencies based on the ExAC data set. Each point represents an allele frequency. Multiple variants may have the same allele frequency, and the number of variants with the specific allele frequency is represented by the position of the point on the Y axis. The individual plots correspond to the four different sets of variants. C(A.) Variants of SLC3A1 reported to be associated with cystinuria. C(B.) Variants of SLC7A9 reported to be associated with cystinuria. C(C.) Variants of SLC3A1 not reported to be associated with cystinuria but present in ExAC. C(D.) Variants of SLC7A9 not reported to be associated with cystinuria but present in ExAC