Table 1

Summary of the gating properties of T-type channel variants

GeneMutationDiseaseBiophysical effectSettingsReference
CACNA1G
(Ca v 3.1)
A570VIGENoneHEK293, 2Ca 144
A961TCAGain-of-functionHEK293T, 2Ca 142
A1089SIGENoneHEK293, 2Ca 144
M1531VCAGain-of-functionHEK293T, 2Ca 142
R1715HCALoss-of-functionHEK293T 138
CACNA1H
(Ca v 3.2)
F161LIGEGain-of-functiontsA-201, 5Ba 99
S196LPAGain-of-functiontsA-201, 2Ca 134
R212CASDLoss-of-functionHEK293T, 2Ca 110
E282KIGEGain-of-functiontsA-201, 5Ba 99
C456SIGENonetsA-201, 5Ba 99
C456SIGEGain-of-functionHippo, 1.8Ca 105
A480TIGENonetsA-201, 5Ba 100
G499SIGENonetsA-201, 5Ca 102
P618LIGEGain-of-functiontsA-201, 5Ba 100
P648LIGENonetsA-201, 5Ca 102
V681LNMDLoss-of-functiontsA-201, 5Ba 123
R744QIGENonetsA-201, 5Ca 102
A748VIGENonetsA-201, 5Ca 102
G755DIGEGain-of-functiontsA-201, 5Ba 100
P769LCPNonetsA-201, 10Ba 130
G773DIGENonetsA-201, 5Ca 102
G784SIGENonetsA-201, 5Ca 102
R788CIGEGain-of-functionHEK293, 5Ca 101
V831MIGEGain-of-functiontsA-201, 5Ba 99
G848SIGEGain-of-functiontsA-201, 5Ca 102
A876TIGEGain-of-functiontsA-201, 2Ca 95
R902WASDLoss-of-functionHEK293T, 2Ca 110
W962CASDLoss-of-functionHEK293T, 2Ca 110
G983SIGELoss-of-functiontsA-201, 2Ca 95
A1059SIGE+CPLoss-of-functiontsA-201, 2-10Ca 95 130
E1170KIGENonetsA-201, 2Ca 95
D1233HNMDLoss-of-functiontsA-201, 5Ba 123
Q1264HIGENonetsA-201, 2Ca 95
D1463NIGENonetsA-201, 5Ba 99
M1549VPAGain-of-functionHEK293T, 5Ca 132
M1549IPAMix effecttsA-201, 2Ca 134
T1606MIGEGain-of-functiontsA-201, 2Ca 95
V1689MNMDLoss-of-functiontsA-201, 5Ba 118
A1705TIGE+NMDGain-of-functiontsA-201, 2Ca 95
A1705TIGE+NMDLoss-of-functiontsA-201, 5Ba 118
T1733AIGEGain-of-functiontsA-201, 2Ca 95
R1871QASDGain-of-functionHEK293T, 2Ca 110
A1874VASDNDHEK293T, 2Ca 110
R1892HIGEGain-of-functiontsA-201, 2Ca 95
V1951GPAGain-of-functiontsA-201, 2Ca 134
R2005CIGEGain-of-functiontsA-201, 2Ca 95
P2083LPAGain-of-functiontsA-201, 2Ca 134
CACNA1I
(Ca v 3.3)
T797MSCZNoneHEK293, 2Ca 149
R1346HSCZLoss-of-functionHEK293, 2Ca 149
  • The biophysical effects produced by each mutation is summarised as None (blue), Gain-of-function (green) and Loss-of-function (red). Recording conditions are also indicated (cell type, nature and concentration of the permeating cation).

  • Green colour: gain-of-function mutation; red colour: loss-of-function mutation; blue colour: no biophysical change.

  • ASD, autism spectrum disorder; CA, cerebellar ataxia; CP, chronic pain; Hippo, hippocampal neuron; IGE, idiopathic generalised epilepsy; NMD, neuromuscular disorder; PA, primary aldosteronism; SCZ, schizophrenia.