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Fig. 3 | Molecular Autism

Fig. 3

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

Fig. 3

Mutation S652 L alters Ca2+-dependent inactivation over a broad voltage range. a, b Voltage-dependence of Ca2+-dependent inactivation of WTL vs S652LL (A) and WTS vs S652LS (B). The fraction of remaining currents was determined at the end of 250 ms (r250) upon depolarizations to different test potentials resulting in a typical U-shaped dependence of voltage. Data are presented as mean ± SEM (> 3 independent transfections); n-numbers are given in parenthesis. c, d f values over a broad voltage range for WTL vs S652LL (C) and WTS vs S652LS (D). f is defined as the difference between r250 values of IBa and ICa at each voltage step and indicates the strength of CDI. CDI of S652 LL and S652LS was more pronounced at negative potentials. At higher potentials CDI remained unchanged for the long mutant but was significantly reduced for S652LS. Statistics: two-way ANOVA of f values followed by Bonferroni post hoc test, *p < 0.05, **p < 0.01, ***p < 0.001 compared to WT. Data are presented as mean ± SEM (> 3 independent transfections)

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