Figure 3

Missense Ca_V2.1 mutations leading to neurodevelopmental disorders. The zebrafish fakir and tb204a mutants are also depicted as yellow circles. Red circles indicate a loss-of-function human mutation. Blue circles indicate a gain-of-function human mutation. Magenta circles indicate a yet-to-be functionally characterized human mutation. Specific references are indicated below. As in Figures 1, 2, please note that residue numbering varies between studies due to: (1) the existence of multiple known CACNA1A splice variants; and (2) species differences between humans and zebrafish. The Ca_V2.1 schematic was modified from Tyagi et al. (2019) with permission of the authors. These mutations are discussed in sections “The Expanding Spectrum OF Ca_V2.1-α_1A Channelopathies” and “Zebrafish as a Model SYSTEM for the Study of Severe Ca_V2.1 Channelopathies.”