Family | DNA | Protein | ||||
---|---|---|---|---|---|---|
ID | n | Nucleotide* | Change | Exon | Change | Domain |
*Nucleotide numbers are based on the human CACNA1A sequence (accession number AC X99897). †Family already reported by Guida et al.3 ID, identification; n, number of patients. | ||||||
4 | 3 | 1041 | TGC-CGC | 5 | C256R | I S5–S6 |
5 | 2 | 4722 | GGG-AGG | 28 | G1483R | III S5–S6 |
3 | 2 | 4739-44 | ΔGTCCAT | 28 | ΔMS1488/9 | III S6 |
1† | 2 | 4747 | TTC-TCC | 28 | F1491S | III S6 |
6 | 3 | 4755 | GTC-ATC | 28 | V1494I | III S6 |
2 | 1 | 6681 | CGC-TGC | 45 | R2136C | COOH-ter |