Figure 1

Figure 1

Schematic representation of human Ca_V2.1 mutations causing episodic ataxia type 2 (EA2). Please note that residue numbering varies between studies due to the existence of multiple CACNA1A splice variants; residue numbers indicated reflect those stated in the original report. Citations to the indicated mutations are listed as follows: E147K—Imbrici et al., 2004; G162V—Maksemous et al. (2016); R192W—Soden et al. (2014); R198Q—Indelicato et al. (2019); Y248C—Zafeiriou et al. (2009); Y248N—Choi et al. (2017); H253Y—van den Maagdenberg et al. (2002); C256R—Mantuano et al. (2004); R279C—Maksemous et al. (2016); C287Y—Jen et al. (2004); G293R—Yue et al. (1997); G297R—Tantsis et al. (2016); D302N—Maksemous et al. (2016); R387G—Maksemous et al. (2016); E388K—Nikaido et al. (2011); L389F—Mantuano et al. (2010); G411W—Maksemous et al. (2016); A454T—Cricchi et al. (2007); R455Q—Isaacs et al. (2017); T501M—Mantuano et al. (2010); G533K—Scoggan et al. (2006); G540R—Rajakulendran et al. (2010a); L621R—Rajakulendran et al. (2010a); G638D—Cuenca-León et al. (2009); I712V—Guerin et al. (2008); M798T—Mantuano et al. (2010); P897R—Mantuano et al. (2010); F1404C—Jen et al. (2001); R1433Q—Pietrobon (2010); G1483R—Mantuano et al. (2004); F1491S—Guida et al. (2001); V1494I—Mantuano et al. (2004); R1662H—Friend et al. (1999); R1665Q—Tonelli et al. (2006); R1680C—Mantuano et al. (2010); H1737L—Spacey et al. (2004); L1749P—Maksemous et al. (2016); R1751W—Bertholon et al. (2009); E1757K—Denier et al. (2001); S1799L—Ohba et al. (2013); C1870R—Mantuano et al. (2010); R2090Q—Melzer et al. (2010); R2136C—Mantuano et al. (2004); P2222L—Sintas et al. (2017). The Ca_V2.1 schematic was modified from Tyagi et al. (2019) with permission of the authors.