Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Figure 4

Consensus model of the wild type and mutant UBIAD1 protein. This shows the consensus figure from seven different modeling algorithms. (a) Wild type UBIAD1 protein. (b) UBIAD1 protein with a p.(Thr103Ile) substitution. The CRAC binding domain is shown in blue, and amino acid 103 is shown in orange. All other amino acids affected by structural changes to transmembrane helices caused by the p.(Thr103Ile) substitution are shown in yellow. Note that the folds seen in the diagram do not represent alpha-helices or beta sheets. Rather, they indicate residue location in relation to the cell membrane.

(a) Wild type

(b) p.(Thr103Ile) mutant