Figure 7 of Tian, Mol Vis 2014; 20:1594-1604.


Figure 7. Diagrams of human bestrophin-1 summarizing known BEST1 mutations associated with BVMD and ARB phenotypes [10]. A: Protein model of bestrophin-1 proposed by Tsunenari et al. [33]; B: Protein model of bestrophin-1 proposed by Milenkovic et al. [34]. Colored residues indicate a missense mutation or in-frame deletion, while the colored bar indicates a nonsense or frameshift mutation. Mutations in the homozygous or compound heterozygous state reported in the present study are marked with *.