Fig. 2

Crystallographic structure analysis of the computer-generated 3D structure model of the human Cystinosin showing its putative topology and the  reviously reported missense mutations. The localisation of the cystinosin regions in cytosol, intra-lysosomal membrane and lysosomal lumen are indicated by closed double arrow. The Transmembrane (TM) helices are colored in red in the ribbon structure, wherase the C-terminal tail and the N-terminal region are colored in blue and green, respectevely. Pink ribbon structure represents the lysosomal sorting signals: the GYDQL motif in the C-terminal tail. Previously described Infantile, Juvenile, Ocular and Atypical Cystinosis mutations are labeled and pointed by dotted arrow in the ribbon structure and colored in pink, orange, black and grey, respectevely. Molecules are oriented to best display all previously reported mutations The 3D structure file were generated from the protein homology modeling server SWISS-MODEL and the images were created using Swiss-PdbViewer 4.1.0 and POV-Ray 3.6 software