a) Schematic of exon 3 of Cryge in No3. The interrupted ORF sequence of exon 3 is shown in yellow (3′ UTR in blue) and the ERV-K insert in red (not to scale). The direct repeat GGCGGC sequences are indicated. Yellow lines indicate the (broken) ORF of exon 3 and below that, the yellow and red line shows the ORF of the read through transcript into the LTR.
b) Sequence at the 5′ (above) and 3′ (below) ends of the ERV-K insertion. Sequence for Cryge exon 3 is in black and LTR sequence is in red. The read through ORF producing the mutant γE sequence is shown translated below the 5′ sequence.
c) Sequence comparison of C57BL/6 wild type, No3, Elo and Cat2tγE crystallins. The complete wild type sequence is shown arranged in four lines corresponding to the four structural motifs (I 1–39; II 40–81; Connecting peptide between domains 82–86; III 87–127; IV 128–173). Above the sequence for the fourth motif, arrows show the positions of the four β-strands. Below the wild type sequence are shown the C-terminal truncations of the different mutants. Also shown is the A51T polymorphism in the second motif of γE from No3.