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[Preprint]. 2023 May 2:2023.05.02.539090. [Version 1] doi: 10.1101/2023.05.02.539090

Figure 4. Location of disease associated AC5 mutations and impaired responses to Gβγ of those associated with familial dyskinesia.

Figure 4.

(A) Cartoon representation of the AC5-Gβγ complex. Somatic mutations identified in AC5 linked to disease are depicted as spheres at their Cα positions. AC5 SNPs that were examined in this study are shown in red. The somatic mutations located at (B) coiled-coil domain, (C) C1b, and (D) catalytic core (from a AlphaFold2 model) are indicated with spheres. (E) Gβγ dose-response curves for AC5 variants in HEK-ΔAC3/6 cell membranes. AC assays were in the presence of 10 mM MgCl2, 100 μM ATP, and 30 nM Gαs·GTPγS at the indicated Gβγ concentrations. Data shown are mean ± SD (n=3).