Figure 3.

Cryo-EM structure of the Atp6v1a. (A) The cryo-EM structure of the Atp6v1a subunit from the mammalian V-ATPase (PDB code 6VQ9). Pathogenic variant sites are drawn as red, yellow, green and orange spheres if they are near the phosphate binding loop (p-loop, blue spheres), A/B interface, A/D or non-catalytic A/B interface and uncharacterized locations, respectively. The pink sphere is the magnesium ion, and the bound ADP molecule is drawn as sticks. (B and C) Structure of the V1 domain from upper (B) and lateral (C) views. One A subunit is shown as grey tube and the other two as grey surface, and B and D subunits are shown as ochre and blue surfaces, respectively. Pathogenic variant sites are drawn as in A.