Fig. 5. The R710W cerebellar ataxia mutation.
a, Location of the R710W mutation site in wild-type hGluD2 (between A and B subunits only). Inset shows a magnified view of the interface. b, Ten-second recordings of hGluD2(R710W) leak currents in the absence of ligand. c, Histogram of GluD2(R710W) leak currents fit with three components (n = 23 individual traces, R2 = 0.9552). Conductance ± s.d. corresponding to each Gaussian component is shown above the bars. d, Left, cryo-EM map of hGluD2(R710W)apo-leak with the unsharpened map overlaid. Right, views or slices that are viewed perpendicular to the demarcations on the left. Demarcation iv is shown in f, left. The area outlined in orange is the location of the front-to-back local dimer interface containing R710W. e, View of front-to-back local LBD dimer interfaces between subunits D and C (left) and subunits A and B (right). f, Changes in pore shape. Arrangement of the M3 helices in hGluD2(R710W)apo-leak (perpendicular to demarcation iv in d) (left) and dilation of the pore from hGluD2(R710W)apo-closed to hGluD2(R710W)apo-leak (right).
