Figure 1. Reported mutations in a fragment of the primary structure of the retinal guanylyl cyclase-1 (RetGC-1) protein, encoded by exon 13 of Guanylate Cyclase 2D (GUCY2D). This figure shows the different mutations that have been previously described in codons 837, 838, and 839 of the GUCY2D gene. The asterisk indicates the novel p.Arg838Pro mutation described in this manuscript. The shadowed area corresponds to the Hemophilus hemolyticus (HhaI) recognition site.