Figure 3. DNA sequence chromatograms and cosegregation analysis showing the cytosine insertion at position 1361 of the cDNA (p.1361insC)
of gap junction alpha 3 (GJA3). A: A portion of the GJA3 DNA sequence in all affected and unaffected individuals of the autosomal dominant congenital cataract (ADCC) family. The
sequence (antisense strand) demonstrates an insertional mutation in codon 397 in the affected individuals. Codons are marked
by brackets and amino acids indicated above. B: Sequence alignment of the intercellular carboxy terminus of reference GJA3 from different species. The black bars highlight
the conserved amino acids. Thirteen amino acids are showed to be highly conserved in the C-terminus of the GJA3 protein in
different species. The mutation site of Ala 397 (indicated by an arrowhead) in human GJA3 protein only shares 67% homology
with those of other species.