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Figure 3. Human DSPP gene structure and known disease-causing mutations. The boxes are exons, and the lines are introns. The lines above the gene diagram mark the positions of known disease-causing mutations in DSPP, which are: p.Y6D, p.A15D, p.P17T, Splice IVS2–3C>G, p.V18F, p.Q45X, Splice IVS3+1G>A, p.R68W, and p.del:1160–1171/p.Ins1198–1199. The amino acids corresponding to the porcine DSPP domain structure (Signal peptide-DSP-DGP-DPP) are shown in parentheses. Much of the human DPP coding region in exon 5 is highly redundant and cannot be screened for mutations.
