Fig. 1.

Schematic representation of mutations in ARSB identified through this study. Rectangles labeled E1–E8 represent exons, with mutations identified marked above them, novel ones in red, known ones in black. Exon-wise locations of Domains 1 and 2 and the secondary structures in the protein are also shown. The region encoding the signal peptide (aa 1–37), located in Exon 1, is shown as a dark blue stripe to the right of 5′ UTR. Figure not to scale.