Figure 1.

Linear schematic of the four domains of the IP₃R and the disease-associated IP₃R mutations found in the LBD, regulatory and coupling, and C-terminal domains.A, disease-associated mutations found in the LBD (49,50, 51, 52,53, 68,69, 70,71). B, disease-associated mutations found in the regulatory and coupling domain (47–49, 52–54, 65, 72,73, 74, 75, 76, 77, 78, 79, 80, 81,82). C, disease-associated mutations found in the C-terminal domain (52,53, 54,55, 65, 83,84, 85, 86, 87, 88,89). Diseases associated with mutations in at least one isoform of IP₃R include SCA29 (blue), Gillespie syndrome (orange), anhidrosis (pink), neuropathy (green), pontocerebellar hypoplasia (dark blue), spinocerebellar ataxia 15/16 (light blue), head and neck squamous cell carcinoma (red), Sézary Syndrome (purple), and familial isolated primary hyperparathyroidism (gray).