Table 1

Cav 2.1 non-truncating (NTR) mutations found in 27 index patients

FamilyDNAProtein
IDnNucleotide*ChangeExonChangeDomain
*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.
431041TGC-CGC5C256RI S5–S6
524722GGG-AGG28G1483RIII S5–S6
324739-44ΔGTCCAT28ΔMS1488/9III S6
1†24747TTC-TCC28F1491SIII S6
634755GTC-ATC28V1494IIII S6
216681CGC-TGC45R2136CCOOH-ter