Figure 8.

PDE6B protein domain representation and partial protein alignment between seven species. The canine crd1-deletion is located in the PDEase-I domain, and it is highly conserved among species. (A) Schematic representation of PDE6B human protein (P35913) and its domain. Using the domain mapping of disease mutations bioinformatic tool,⁴⁵ SNPs in PDE6B are shown by blue pins; reported mutations (n = 11) are shown in red pins; the inferred location of the crd1-mutation is shown by two yellow arrow-heads. Protein domains are shown in rectangles. The domain where the canine crd1- deletion is located (PDEase_I-pfam00233) is indicated by the green box. (B) Conservation of PDE6B protein. Partial PDE6B human protein sequence is aligned to homologous horse, bovine, mouse, xenopus, zebrafish, the dog wildtype, and affected protein sequence. Amino acid 802 (boxed N) is conserved in all seven species. The red W identifies the location of the nonsense mutation responsible for canine rcd1; the red K identifies the location of the insertional mutation responsible for PRA in the Sloughi dog breed, all located in exon 21. The deleted amino acid is denoted by (-) in the eighth sequence.