Figure 2. Two missense mutations abolish ORAI1 protein expression in P6.
A, ORAI1 C308A and T581C mutations result in single amino acid substitutions A103E and L194P in TM1 and TM3 (shaded or boxed) of ORAI1, respectively. B–C, Undetectable endogenous (B) and ectopic (C) expression of ORAI1 protein in fibroblasts from P6 (B) and HEK293 cells transfected with ORAI1 mutants (C). WT, wild-type; glyc., glycosylated. D, Impaired Ca2+ influx in nontransfected (nt) fibroblasts from P6 is restored by expression of ORAI1. Bar graphs represent averages of peak Ca2+ influx from 4–6 experiments. E, Location of ORAI1 mutations in P4 and P6.