MOESM1 of Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder

Additional file 1: Figure S1. Expression of WT and S652L Cav1.3 α1-subunits in HEK-293 cells. (A) Expression of C-terminally long and short WT and S652L α1-subunits by Western blot analysis. One representative Western blot of >3 experiments from >2 membrane preparations of transfected HEK-293 cells stably expressing β3 and α2δ-1 is shown. The apparent molecular mass of the full length forms of the long and short Cav1.3 α1-subunit splice variants obtained under our experimental conditions is indicated. (B) Quantification of relative total protein expression levels was carried out by integrating densities of WT and mutant signals and normalization to the loading control α-tubulin (α-tub). Statistics: unpaired student´s t-test compared to WT (S652 LL: 118.26 ± 23.43, n = 4; S652 LS: 129.62 ± 8.94, n = 3). Data are presented as mean ± SEM.