Research Article

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

Figure 1

Localization of the tested nonsynonymous (missense) amino acid substitutions in the structure of connexin 26. Note. The information about the structure Сx26 was obtained from the database of three-dimensional structures of proteins and nucleic acids PDB ID:2ZW3 (https://www.ncbi.nlm.nih.gov/Structure/pdb/2ZW3) [22]. Localization of the studied amino acids in structure of Cx26 was obtained using the 3D-structure viewer applet with the protein structure loaded software PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/). Detailed structure models of human Cx30 and Cx31 proteins are currently not defined.