Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky Ca channels and activation of store-operated Ca entry.

Mutations in all subtypes of the inositol 1,4,5-trisphosphate receptor Ca release channel are associated with human diseases. In this report, we investigated the functionality of three neuropathy-associated missense mutations in IPR3 (V615M, T1424M, and R2524C). The mutants only exhibited function when highly over-expressed compared to endogenous hIPR3.