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Localization of the mutation in the structure of the protein. The localization of the mutation presented in this study, p.Y4864H, as well as two close amino acids R4864 and I4898 both involved in CCD, are reported on the structure of RyR1 recently proposed from single particle electron cryomicroscopy [31, 32]. These amino acids are in the luminal loop between transmembrane helixes S5 and S6, which contain the pore helix (P-helix) involved inpore formation.
