Research Paper Volume 12, Issue 5 pp 4268—4282

GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease

Figure 3. 3D structure of lysosomal alpha-glucosidase and conservation of the missense mutation among different species. (A) the normal 3D structure of lysosomal alpha-glucosidase. (B) the 3D structure of lysosomal alpha-glucosidase resulting from the frameshift mutation, shaded part can not expression because of premature translation termination. (C) the missense mutation reported in this study is highlighted by a blue rectangle, illustrating that the p.Trp746Cys mutation is in a highly conserved region.