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Fig. 1 | Molecular Autism

Fig. 1

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

Fig. 1

Mutation S652L induces severe gating changes. a, b Current-voltage relationship (ICa; mean ± SEM) of WT and mutant C-terminal long (WTL, S652LL, A) and short (WTS, S652LS, B) Cav1.3 splice variants recorded in parallel on the same day using 50-ms depolarizing square pulses to various test potentials from a holding potential (HP) of -89 mV. Inset: Representative ICa traces upon depolarization to the potential of maximal inward current (Vmax). Statistics: two-way ANOVA followed by Bonferroni post hoc test, *p < 0.05, **p < 0.01, ***p < 0.001. c, d Normalized steady-state activation and inactivation curves of WTL vs S652LL (c) and WTS vs S652LS (d). Data are presented as mean ± SEM; for parameters, statistics and number of experiments see Table 1. e, f Window currents of WTL vs S652LL (E) and WTS vs S652LS (F). Data were obtained by multiplying the steady-state inactivation (c, d) at a given potential with the corresponding current densities of the I-V-relationships (a, b). Statistics: Student's t-test (multiple comparison adjusted),***p < 0.001, **p < 0.01. Data are represented as mean ± SEM for the n-numbers indicated. Data were collected from > 3 independent transfections

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