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Table 2 Normalized inactivation kinetic parameters of mutation S652L

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

α1-subunitr50r100r250r500r1000r5000n
Remaining ICa [%]
WTL65.6 ± 2.6654.5 ± 2.9636.9 ± 2.9624.9 ± 2.6516.9 ± 2.408.60 ± 2.2023
S652LL52.8 ± 2.05***35.2 ± 1.92***17.1 ± 1.68***10.8 ± 1.52***8.04 ± 1.43**5.33 ± 1.3322
WTS29.3 ± 2.0723.3 ± 1.9017.1 ± 1.7112.9 ± 1.4510.1 ± 1.106.21 ± 0.8120
S652LS26.4 ± 1.4717.6 ± 1.25*10.5 ± 0.99**7.11 ± 1.05**6.15 ± 0.63**3.34 ± 0.40**22
Remaining IBa [%]
WTL92.55 ± 0.7788.74 ± 1.0279.10 ± 1.7768.4 ± 2.7557.37 ± 3.3630.26 ± 3.3017
S652LL86.78 ± 0.92***76.91 ± 1.70***59.05 ± 2.42***47.17 ± 2.94***36.33 ± 3.12***17.24 ± 2.70**14
WTS93.57 ± 0.8888.24 ± 1.4676.96 ± 2.8364.48 ± 3.6450.89 ± 4.2625.67 ± 3.4919
S652LS84.74 ± 1.66***72.67 ± 2.70***53.91 ± 3.35***40.74 ± 3.35***29.98 ± 2.76***15.27 ± 1.92*17
  1. r values represent the percent of remaining ICa or IBa after 50, 100, 250, 500, 1000 and 5000 ms (5-s depolarization from a HP of − 89 mV to Vmax). All values are presented as mean ± SEM (> 3 independent transfections). Statistics: unpaired Student’s t test of r values, *p < 0.05, **p < 0.01, ***p < 0.001 in comparison to respective WT. n, number of recordings; WT, wild-type