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. Author manuscript; available in PMC: 2014 Aug 6.
Published in final edited form as: Nature. 2013 Dec 22;506(7486):111–115. doi: 10.1038/nature12824

Extended Data Figure 8. Ataxia Oculomotor Apraxia (AOA1) mutations.

Extended Data Figure 8

a, The positions of Aptx mutations found in AOA1 are mapped onto the structure of human Aptx. b. Omit 2Fo-Fc electron density for the K197Q variant. A solvent molecule occupies the position of the Lys 97 epsilon amino group of the wild type protein, and Gln197 rotates away from the active site pocket, into the protein core. c, Surface representation of the K197Q mutant (pink) overlaid upon Wt-Aptx (gray). In K197Q, the active site pocket is distorted, and rearrangements in the protein core proximal to Gln197 are also observed, and involve Leu273.