Figure 1. Enamelin gene structure and mutations that cause autosomal-dominant amelogenesis imperfecta. The structure of the human enamelin gene showing the positions of 5 known mutations in an AI kindred is shown at the top. The exons are blocks numbered 1 through 10; the introns are lines. Below each exon is the range of amino acids in the enamelin protein encoded by the exon. The lower box shows the predicted effect of each mutation on the protein, the location of the mutation in the cDNA and gene, the type of enamel defect, and the reference(s) where each mutation is described.