Figure 2. Mutation analysis of GJA8. A: Partial nucleotide sequence of GJA8 from an affected individual. The sequence in affected individuals showed a heterozygous C→T transversion (indicated by the
arrow), resulting in a substitution of arginine for tryptophan at amino acid residue 198. B: Unaffected individuals and the control subjects lacked this nucleotide change. C: The alignment of the GJA8 sequence with the corresponding segments in diverse species was shown. The 198th arginine was
highly conserved in connexin 50 proteins from several species.