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p.R304W in STIM1 causes Stormorken syndrome. (A and B) Pedigrees of the two families affected by Stormorken syndrome. Arrows indicate the probands in each family. Asterisk indicates individuals whose whole exome was sequenced. (C) Diagram of human STIM1_R304W and sequence alignment of the Cα2 of coiled coil domain 1 (CC1) of WT human, mouse, and zebrafish STIM1 and STIM2. Cα1–3, α-helix 1–3 in CC1; EF, EF hand; ID, inhibitory domain; TM, transmembrane domain.
