Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia

<table>Amino acid conservation of the RYR1 region where the novel sequence variant was detected. For the p.Ser2345Arg mutation, the relevant cutout from the amino acid sequence of RYR1 is aligned to the RYR sequences from other species. Amino acids are denoted by the single-letter code. Amino acids divergent from human RYR1 are shaded. The position of p.Ser2345Arg is indicated by an arrow. To illustrate the evolutionary conservation of the RYR1 region where the novel sequence variant occurred, the corresponding sequences from other vertebrates are given: gorilla (<i>Gorilla gorilla gorilla</i>), chimpanzee (<i>Pan paniscus</i>), dog (<i>Canis lupus familiaris</i>), mouse (<i>Mus musculus</i>), cow (<i>Bos taurus</i>) from mammals, turkey (<i>Meleagris gallopavo</i>) from birds, frog (<i>Xenopus tropicalis</i>) from amphibian, and minnow (<i>Pimephales promelas</i>) from fish.</table>

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Figure 2

Figure 2: Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia 