Fig. 3

Predicted splicing effects of two exonic variants on the AE3 protein. Graphical representation of the wildtype human AE3 protein and the predicted splicing effects of exonic variants on the protein. The numbers of amino acids are indicated, and the nucleotides affected by the variants are flanked by square brackets. a Normal full-length (AE3fl1, 1259 amino acids) protein. b SNP_2 may introduce an acceptor site resulting in the reduction in the size of exon 22 from 174 to 27 bp. This results would be an in-frame deletion of 49 amino acids near the C-terminus of the protein, and a final protein 1210 amino acids in size. c SNP_3 may remove an acceptor site resulting in an increase in the size of exon 18 from 90 to 270 bp, which would result in an insertion of 41 amino acids (Ins), a premature termination codon, and the loss of 269 amino acids at the C-terminus. SNP = single nucleotide polymorphism