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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

 

Activation

Inactivation

α1-subunit

V0.5 (mV)

k (mV)

Vrev (mV)

n

V0.5,inact (mV)

k (mV)

Non-inactivating (%)

n

WTL

− 0.18 ± 0.97

9.63 ± 0.19

71.1 ± 1.46

21

− 25.7 ± 1.42

5.64 ± 0.26

22.5 ± 2.26

18

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 ± 0.72

7.65 ± 0.13

64.7 ± 0.71

23

− 31.2 ± 0.67

4.78 ± 0.23

12.1 ± 0.99

15

S652LS

− 23.5 ± 0.44***

7.32 ± 0.10*

58.4 ± 0.54***

24

− 47.2 ± 0.42***

4.24 ± 0.16

9.14 ± 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
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Molecular Autism

ISSN: 2040-2392