Figure 3. Mutational analysis of GJA3. A: Sequence chromatograms of the wild-type GJA3 allele, showing that the wild-type gene encodes Glycine residue (GGG). B: Sequence chromatograms of the mutant allele, showing a G→A transition that substituted Arginine residue (AGG). C: Glycine at position 143 of Cx46 protein is highly conserved across animal species. D: Amino acid residue Gly-143 is conserved in various types of human gap junction protein.