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. 2021 Jun 28;108(8):1450–1465. doi: 10.1016/j.ajhg.2021.06.003

Figure 6.

Figure 6

Mapping of variants on a homology model of ClC-3

Based on the structure of the Cm-CLC transporter _ENREF_37,50 a ClC-3 homology model was constructed by the Swiss model server. One subunit is shown in light blue, the other in gray. The “gating” glutamate is shown as red sticks. Affected residues are shown in spacefill and are color coded (red: p.Ile607Thr, magenta: Thr570, green: Ala413, yellow: Val772, brown: Ile252, blue: Ser453). A, top view from the extracellular (luminal) side; B, side view from within the membrane, which is schematically indicated by dashed lines.