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| mouse mutation, Tommy, causes a non-conservative Glu629Lys change in the second intracellular loop of the pump which harbors the active site, leading to profound hearing impairment from P18, with significant differences in hearing thresholds between wild type and heterozygotes  | |
Atp2b2 murine mutant overexpressed in model cells displayed an evident defect both in the basal activity of the pump and in the long range ejection of Ca(2+), the human mutant instead failed to impair the Ca(2+) ejection by the pump |