Fig. 1

Location of mutations within all 3 functional domains of the ITPR1 gene product (NM001099952.2). Three major domains represented including the IP₃-binding domain (1–576), coupling/regulatory domain (576–2276), transmembrane domain (2276–2590) and C-terminal tail (2590–2749). Inhibitory binding sites IRBIT (224–604) and CARP (1387–1647) are indicated. Red asterisks represent mutations described in this study. Previously reported mutations with a SCA29 phenotype are highlighted by blue asterisks [4, 5, 7,8,9,10, 24]. Multiple asterisks at a mutation indicate recurrence in unrelated patients