Extended Data Fig. 6: Mapping the pathogenic mutations and critical residues on the VAChT structure.

a. The side-view of the structure of hVAChT with pathogenic mutations. The Cα atoms of the pathogenic mutations are shown as spheres. b. Currently reported pathogenic mutations and associated disease. CMS: Congenital myasthenic syndromes. The mutations labeled with ‘*’ represent nonsense variants. c. The representative residues surrounding the positions of various pathogenic mutations. N-domain and C-domain are colored in purple and pink, respectively. d. Mapping of four residues A228, G233, S252, and C391 on the hVAChT structure derived from Caenorhabditis elegans mutants. The Cα atoms of the residues are shown as spheres. Vesamicol and acetylcholine are represented as gold and cyan sticks, respectively. e. The positions of residues A228, G233, S252, and C391 relative to the ligand-binding pocket of VAChT. N-domain and C-domain are colored in purple and pink, respectively.