Fig. 2

Locations of the mutations in the human GAA structure (PDB: 5NN8, [21]). a The positions of the novel mutations are indicated by residue sticks with blue color and the previously reported mutations are indicated by residue sticks with green color, respectively. b, c and d Close-up view of the position p.Ala261Thr, p.Asp513Gly and p.Leu632Arg, respectively