Figure 2.

Splice-site duplication in a patient with TGA. A, Tandem 20-bp duplication (red) of the exon 4 splice-donor site found in a subject with TGA. The native and duplicated splice sites are indicated by an arrow (↓). The star marks where the duplication occurred. Both the wild-type and the mutant sequence are demonstrated. B, Wild-type and mutant gene structure demonstrates signal peptide sequence (SS; turquoise), conserved EGF-like domain (EGF; red), conserved-CFC domain (CFC; green), hydrophobic domain (HD; dark blue), and predicted altered sequence in mutant protein (light blue). The conserved CFC domain and hydrophobic region are not present in the predicted product.