Gene | Mutation | Disease | Biophysical effect | Settings | Reference |

CACNA1G
(Ca
_{v}
3.1)
| A570V | IGE | None | HEK293, 2Ca | 144 |

A961T | CA | Gain-of-function | HEK293T, 2Ca | 142 | |

A1089S | IGE | None | HEK293, 2Ca | 144 | |

M1531V | CA | Gain-of-function | HEK293T, 2Ca | 142 | |

R1715H | CA | Loss-of-function | HEK293T | 138 | |

CACNA1H
(Ca
_{v}
3.2)
| F161L | IGE | Gain-of-function | tsA-201, 5Ba | 99 |

S196L | PA | Gain-of-function | tsA-201, 2Ca | 134 | |

R212C | ASD | Loss-of-function | HEK293T, 2Ca | 110 | |

E282K | IGE | Gain-of-function | tsA-201, 5Ba | 99 | |

C456S | IGE | None | tsA-201, 5Ba | 99 | |

C456S | IGE | Gain-of-function | Hippo, 1.8Ca | 105 | |

A480T | IGE | None | tsA-201, 5Ba | 100 | |

G499S | IGE | None | tsA-201, 5Ca | 102 | |

P618L | IGE | Gain-of-function | tsA-201, 5Ba | 100 | |

P648L | IGE | None | tsA-201, 5Ca | 102 | |

V681L | NMD | Loss-of-function | tsA-201, 5Ba | 123 | |

R744Q | IGE | None | tsA-201, 5Ca | 102 | |

A748V | IGE | None | tsA-201, 5Ca | 102 | |

G755D | IGE | Gain-of-function | tsA-201, 5Ba | 100 | |

P769L | CP | None | tsA-201, 10Ba | 130 | |

G773D | IGE | None | tsA-201, 5Ca | 102 | |

G784S | IGE | None | tsA-201, 5Ca | 102 | |

R788C | IGE | Gain-of-function | HEK293, 5Ca | 101 | |

V831M | IGE | Gain-of-function | tsA-201, 5Ba | 99 | |

G848S | IGE | Gain-of-function | tsA-201, 5Ca | 102 | |

A876T | IGE | Gain-of-function | tsA-201, 2Ca | 95 | |

R902W | ASD | Loss-of-function | HEK293T, 2Ca | 110 | |

W962C | ASD | Loss-of-function | HEK293T, 2Ca | 110 | |

G983S | IGE | Loss-of-function | tsA-201, 2Ca | 95 | |

A1059S | IGE+CP | Loss-of-function | tsA-201, 2-10Ca | 95 130 | |

E1170K | IGE | None | tsA-201, 2Ca | 95 | |

D1233H | NMD | Loss-of-function | tsA-201, 5Ba | 123 | |

Q1264H | IGE | None | tsA-201, 2Ca | 95 | |

D1463N | IGE | None | tsA-201, 5Ba | 99 | |

M1549V | PA | Gain-of-function | HEK293T, 5Ca | 132 | |

M1549I | PA | Mix effect | tsA-201, 2Ca | 134 | |

T1606M | IGE | Gain-of-function | tsA-201, 2Ca | 95 | |

V1689M | NMD | Loss-of-function | tsA-201, 5Ba | 118 | |

A1705T | IGE+NMD | Gain-of-function | tsA-201, 2Ca | 95 | |

A1705T | IGE+NMD | Loss-of-function | tsA-201, 5Ba | 118 | |

T1733A | IGE | Gain-of-function | tsA-201, 2Ca | 95 | |

R1871Q | ASD | Gain-of-function | HEK293T, 2Ca | 110 | |

A1874V | ASD | ND | HEK293T, 2Ca | 110 | |

R1892H | IGE | Gain-of-function | tsA-201, 2Ca | 95 | |

V1951G | PA | Gain-of-function | tsA-201, 2Ca | 134 | |

R2005C | IGE | Gain-of-function | tsA-201, 2Ca | 95 | |

P2083L | PA | Gain-of-function | tsA-201, 2Ca | 134 | |

CACNA1I
(Ca
_{v}
3.3)
| T797M | SCZ | None | HEK293, 2Ca | 149 |

R1346H | SCZ | Loss-of-function | HEK293, 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.