Figure 3. DNA sequence of a part of GJA8 from an unaffected and an affected individual with jelly-fish like cataract followed by a multiple alignment of partial amino acid sequences of connexin 50 from different species and of connexin 46 from homo sapiens. A: DNA sequence analysis of a part of GJA8 from an unaffected and an affected individual are displayed in the electropherograms (forward strand; individuals II:3 and II:5, respectively). The wild-type G in the sequence of the unaffected individual and the heterozygous c.134G→C change resulting in substitution of tryptophan-45 by serine (p.W45S) in the affected individual’s sequence are indicated by arrows. F indicates the portion of GJA8 sequence, the forward strand, in the unaffected and affected individuals. B: A multiple alignment of partial amino acid sequences of connexin 50 from different species and of connexin 46 from Homo sapiens is shown. The alignment data indicate that tryptophan at position 45 (indicated by an arrow) is highly conserved in different species in connexin 50 and also in connexin 46 in Homo sapiens.