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Table 5 Normalized inactivation kinetic parameters of mutation S652W

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

 

Remaining ICa [%]

α1-subunit

r50

r100

r250

r500

r1000

r5000

n

WTL

60.45 ± 4.22

47.88 ± 4.09

30.88 ± 3.21

20.44 ± 2.26

14.61 ± 1.85

7.59 ± 0.86

11

S652WL

62.86 ± 2.34

49.49 ± 2.35

31.35 ± 2.13

20.61 ± 1.99

13.85 ± 1.53

6.35 ± 0.74

13

  1. r values represent the fraction of remaining ICa after 50, 100, 250, 500, 1000, and 5000 ms upon a 5-s depolarization to the voltage of maximal inward current (Vmax). All values are presented as meanM (> 3 independent transfections). No significant differences were found by unpaired Student’s t test of r values, compared to WTL. n, number of recordings; WT, wild-type
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Molecular Autism

ISSN: 2040-2392