Figure 3.

Location of osteopetrosis mutations on the structure of ClC-7 (PDB entry: 7JM7). For clarity, the mutations are indicated only in the grey monomer. ARO mutations are represented by red spheres, ADO II mutations by blue spheres and IARO mutations by orange spheres (except the variants found as compound heterozygous V418M-R674Q, as they also cause ADO II when expressed alone [60]). The cyan sphere represents the mutation Y715C, causing lysosomal storage disease and albinism without osteopetrosis [68]. The magenta spheres represent the three anion binding sites in the permeation pathway.