Skip to main content

Table 1 Steady-state activation and inactivation parameters of mutation S652L

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

 ActivationInactivation
α1-subunitV0.5 (mV)k (mV)Vrev (mV)nV0.5,inact (mV)k (mV)Non-inactivating (%)n
WTL− 0.18 ± 0.979.63 ± 0.1971.1 ± 1.4621− 25.7 ± 1.425.64 ± 0.2622.5 ± 2.2618
S652LL− 16.3 ± 0.75***8.27 ± 0.10***59.9 ± 1.03***23− 43.3 ± 1.29***4.99 ± 0.12*12.8 ± 1.31***20
WTS− 10.6 ± 0.727.65 ± 0.1364.7 ± 0.7123− 31.2 ± 0.674.78 ± 0.2312.1 ± 0.9915
S652LS− 23.5 ± 0.44***7.32 ± 0.10*58.4 ± 0.54***24− 47.2 ± 0.42***4.24 ± 0.169.14 ± 0.96*15
  1. Parameters were obtained from fitting normalized steady-state activation (G/Gmax) or inactivation curves (I/Imax) to a Boltzman relationship. All values are presented as mean ± SEM (> 3 independent transfections). Statistics: unpaired Student’s t test, *p < 0.05, ***p<0.001 compared to WT. n, number of recordings. V0.5, half maximal activation/inactivation voltage; Vrev, reversal potential; WT, wild-type