Figure 1.

Sequence features and positions of GLA nonsense mutations selected for the study.

(A) Schematic representation of α-Gal and relative position of nonsense mutations (top) and of predicted missense changes arising from translational readthrough (bottom). The sequence contexts of nonsense mutations, namely the PTC (underlined) and the following nucleotide (italic), are also indicated above each nonsense mutation. SP, signal peptide; Myc, carboxyl-terminal Myc tag. (B) Sequence alignment among human (NP_000160.1), chimpanzee (XP_003954083.2), rhesus macaque (XP_001093625.1), pig (NP_001171396.1), bovine (NP_001179665.1) and mouse (NP_038491.2) α-Gal proteins. Positions 56, 119, 209 and 321 are marked by black rectangles.