Figure 2
From: Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
Molecular modeling of CDH23 extracellular domains 3 and 15. Cadherin-23 contains conserved extracellular cadherin (EC) repeat domains. Overall, the structure of all predicted 3D models reveals a typical folding pattern with several beta strands (yellow). (A, B) Amino acid residues Pro240 and Asn342 are located in EC3. (C, D) Amino acid residue Glu1595 is located in EC15. The structures of A and C are wild-type and those of B and D are mutant. The p.Asn342Ser in EC3 and p.Glu1595Lys in EC15 are associated with highly conserved EC calcium-binding sites (purple) in the linker region between cadherin repeats.