Fig. 3

Schematic representation of RyR1 monomer functional domains. RyR1 sequence is presented as yellow bar with functional regions represented as colored boxes. Domain structural organization is presented on top. Dotted lines highlight regulative regions where red implies inhibition and green activation of the channel. Arrows represent the position for each mutation (frameshift mutations not shown). New mutations modelled in silico are wrote in red and marked with * when predicted as pathogenic, in green marked with # when benign