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Figure 5: Schematic diagram of SERCA1 protein with the mutations identified to date. SERCA1 transmembrane helices are indicated by the blue boxes and are numbered from 1 to 10. The cytosolic regions of the protein, including the actuator, the phosphorylation and the nucleotide-binding domains, are represented by the green boxes. The figure shows the pathogenic mutations reported in the literature and their location in the SERCA1 protein. |