Appendix 4 of Goldstein, Mol Vis 2013; 19:1871-1884.


Appendix 4. Exonic polymorphisms (SNPs) identified within 2 genes (KCNJ13 and SAG) evaluated as positional candidates for Progressive Retinal Atrophy (PRA) in Basenji dogs.

To access the data, click or select the words “Appendix 4.” All exons from both genes were amplified and sequenced from a Boxer, two unaffected Basenjis, one PRA affected Basenji and its unaffected sibling. A. Only one exonic SNP was identified in KCNJ13; this was not in association with the Basenji PRA phenotype. B. Ten exonic SNPs were identified in SAG. Two (Nos.1 and 2) were in the 5′ UTR of exons 1 and 2, respectively; 5 (Nos. 3–7) were in exonic coding sequence but each one was a synonymous third-base codon change; and two (Nos. Nine and 10) were in the 3′UTR. SNP No. 8 (in red), a T>C transition at position 47,845,680 changes the normal stop codon to code for arginine, and was thus identified as a candidate for the causative mutation. In bold are coding sequence SNPs.