Table 1 Biophysical parameters of Cav1.2 WT, R412M and G406R channels.

From: Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly

Biophysical parameter

WT

R412M

G406R

Activation parameters

(n = 18)

(n = 10)

(n = 5)

 Peak density (pA/pF)

− 12.3 ± 0.95

− 10.9 ± 0.75

− 11.0 ± 1.7

 Vh (mV)

1.9 ± 1.3

− 3.7 ± 1.3*

− 9.2 ± 1.2

 k

7.8 ± 0.23

5.7 ± 0.23*

5.1 ± 0.40

Conductance parameters

(n = 18)

(n = 10)

(n = 5)

 Vrev (mV)

72.5 ± 1.3

62.8 ± 2.1*

60.8 ± 2.0

 Peak density (pS)

0.26 ± 0.025

0.22 ± 0.056

0.17 ± 0.013

Inactivation parameters

(n = 15)

(n = 12)

(n = 6)

 ICa Vh (mV)

− 11.8 ± 1.4

− 4.1 ± 1.4*

− 10.0 ± 2.0

 ICa k

− 8.2 ± 1.1

− 7.8 ± 0.65

− 6.6 ± 0.52

 IBa Vh (mV)

− 21.7 ± 6.3

− 12.1 ± 5.9 *

NA

 IBa k

− 12.9 ± 2.9

− 12.1 ± 4.7

NA

Inactivation

(n = 18)

(n = 10)

(n = 5)

 τfast (ms)

0 mV

18.7 ± 2.0

24.0 ± 1.8

35.8 ± 4.8

+ 10 mV

15.0 ± 0.8

25.5 ± 1.6*

38.0 ± 7.2

+ 20 mV

15.6 ± 0.7

31.0 ± 2.7*

39.9 ± 2.3

 A fast/A peak

0 mV

0.51 ± 0.015

0.55 ± 0.033

0.41 ± 0.034

+ 10 mV

0.52 ± 0.0092

0.50 ± 0.012

0.29 ± 0.044

+ 20 mV

0.46 ± 0.010

0.40 ± 0.013

0.18 ± 0.019

 τslow (ms)

0 mV

165.5 ± 26.6

400.0 ± 102.8

387.7 ± 161.3

+ 10 mV

123.4 ± 6.6

347.5 ± 75.3*

346.6 ± 135.4

+ 20 mV

105.0 ± 5.6

251.3 ± 39.5*

244.6 ± 37.8

 A slow/A peak

0 mV

0.37 ± 0.010

0.23 ± 0.017*

0.22 ± 0.031

+ 10 mV

0.40 ± 0.0063

0.31 ± 0.022*

0.30 ± 0.025

+ 20 mV

0.48 ± 0.010

0.42 ± 0.021

0.34 ± 0.019

 A steady/A peak

0 mV

0.15 ± 0.020

0.30 ± 0.039*

0.42 ± 0.013

+ 10 mV

0.082 ± 0.0081

0.21 ± 0.034*

0.45 ± 0.048

+ 20 mV

0.055 ± 0.0057

0.60 ± 0.39*

0.48 ± 0.023

  1. Peak current density of activation was measured at + 20 mV for WT and at + 10 mV for R412M. Peak conductance was measured at + 40 mV.
  2. NA not available.
  3. *P < 0.05 R412M versus WT.
  4. P < 0.05 G406R versus WT.
  5. P < 0.05 R412M versus G406R.