Figure 5.

A cluster of mutations in α-helix 7 that cause Gaucher disease. Transparent ribbon diagram showing the three domains of acid-β-glucosidase as in Fig. 1A, but rotated ∼90° around the x axis to look down helix 7, which is shown in red. The amino acids on this helix that are mutated in Gaucher disease (R359, Y363, S366, T369 and N370) are shown as red balls and sticks. E235 and E340 (the activesite residues) are shown with carbon atoms as yellow balls and oxygen atoms as red balls.