Figure 1.
Legend: Sequence of human DSPP illustrating 5' mutations. Normal sequence is on main line with mutation amino acids noted above. Grey highlights indicate dentin dysplasia, black highlights indicate the more severe dentinogenesis imperfecta. Intron base changes that cause skipping of Exon 3 are similarly indicated. * denotes proposed amino acid change that actually results in the skipping of Exon 3. Leader sequence is underlined.