Ca2+ channel gene (former nomenclature)
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Ca2+ channel gene (HUGO/GDB gene nomenclature)96
97
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Human disease
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Mouse model
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Common mutations
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CACNL1A4 (α1A)
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CACNA1A
| Episodic ataxia type 2 | | 1 bp deletion (del4073C); IVS24DS, G-A, +1; (CAG)n expansion |
CACNL1A4 (α1A)
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CACNA1A
| Familial hemiplegic migraine | | R192Q; T666M; V714A; I1819L; D715E |
CACNL1A4 (α1A)
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CACNA1A
| Spinocerebellar ataxia type 6 | | (CAG)n expansion; G293R |
CACNL1A4 (α1A)
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CACNA1A
| | Tottering | P647L |
CACNL1A4 (α1A)
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CACNA1A
| | Leaner | Splicing error |
CACNL1F (α1F)
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CACNA1F
| Incomplete X linked congenital stationary night blindness | | G369D, R508Q, R1049W, L1364H; |
1 bp insertion (3133insC); |
12 bp deletion (del3658-3669); |
3 stop codon causing mutations (R958X, Q1348X, K1591X) |
CACNL1A3 (α1S)
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CACNA1S
| Hypokalaemic periodic paralysis | | R528H; R1239H; R1239G |
CACNL1A3 (α1S)
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CACNA1S
| Malignant hyperthermia susceptibility | | R1086H |
CACNLA2 (α2δ)
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CACNA2D1
| Malignant hyperthermia susceptibility | | Unknown |
CACNLB4 (β4)
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CACNAB4
| | Lethargic | Splicing error |
CACNLG2 (γ2)
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CACNG2
| | Stargazer | Early transposon insertion |