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. 2013 Jul;1828(7):1598–1607. doi: 10.1016/j.bbamem.2012.11.026

Table 2.

Disease causing mutations in human Cav1.2, Cav1.3 and Cav1.4 alpha1-subunits. Different types of mutations have been reported: M, missense; T, truncation; D, deletion; I, insertion; Dupl, duplication; bp, base pair. Splice site mutations are not included in the table. References: 1: Antzelevitch et al., 2007; 2: Burashnikov et al., 2010; 3: Splawski et al., 2004; 4: Splawski et al., 2005, 5: Etheridge et al., 2011; 6: Baig et al., 2011; 7: Strom et al., 1998; 8: Bech-Hansen et al., 1998; 9: Boycott et al., 2001; 10: Nakamura et al., 2001; 11: Wutz et al., 2002; 12: Jacobi et al., 2003; 13: McRory et al., 2004; 14: Hemara-Wahanui et al., 2005; 15: Hoda et al., 2005; 16: Hope et al., 2005; 17: Zeitz et al., 2005; 18: Hoda et al., 2006; 19: Jalkanen et al., 2006; 20: Singh et al., 2006; 21: Jalkanen et al., 2007; 22: Peloquin et al., 2007; 23: Zeitz et al., 2009; 24: Simonsz et al., 2009. Numbering of mutations refers to the following Genbank accession numbers: Cav1.2: NM_000719, UNIPROT entry number: Q13936, Cav1.3: EU363339, UNIPROT entry number: B0FYA3, Cav1.4: UNIPROT entry number: O60840-1, isoform 1. Numbering referring to Genbank accession number JF701915 in publications showing functional data is added in parenthesis (this isoform contains exon 9a and therefore lacks 11 amino acids). * indicates that loss of channel function is highly predicted.

Cav1.4
Exon Type Loss-of-function Ref Exon Type Gain-of-function Ref Exon Type CTM-function impaired Ref Exon Type Unknown function Ref
2 T p.Arg50stop* 9 8 M p.Gly369Asp 7, 9, 11, 13, 16 41 T p.Lys1602stop (1591) 7, 11, 20 2 M p.Cys74Arg 11, 24
2 D/I c.151del5* 11 17 M p.Phe753Cys
(742)		 11, 23 46 T p.Arg1827stop (1816) predicted20 11 6 M p.Gly261Arg 11
2 T p.Arg82stop* 9, 11 17 M p.Ile756Thr
(745)		 14, 16 7 D/I c.951del3bp 9
4 D/I c.271del4 bp/ins34 bp, del/ins net 30 bp* 9, 10 8 M p.Gly359Arg 24
6 M p.Ser229Pro 11, 15 16 M p.Asn746Thr 23
7 D/I c.904insG* (709) 10 21 M p.Leu860Pro [849] 11
7 D/I c.935delA* 23 23 M p.Asp944Tyr 23
8 T Trp360stop 24 28 M p.Glu1145Lys 23
9 D/I c.1218delC* 8, 9 29 M p.Arg1182Pro 11
10 T p.Gln428stop* 11 31 M p.Ser1265Ile 17
13 M p.Arg519Gln (508) 7, 9, 18, 23 33 M p.Arg1296Ser 17
14 T p.Arg625stop* 9, 11 38 M p.Leu1486Pro 23
15 T p.Arg691stop* 17 38 M p.Pro1492Ala 23
21 T p.Arg895stop* 8, 9, 17 38 M p.Cys1499Arg 11
24 T p.Arg969stop* 7, 11 38 M p.Pro1500Arg 11, 24
24 T p.Arg978stop* 10 39 M p.Leu1508Pro 11
25 M p.Gly1018Arg (1007) 11, 23 47 D/I c.5665delC 9
27 D/I c.3158delG* 9
27 D/I c.3166-3167insC* (c.3133-3134insC) 7, 8, 9, 11
27 M p.Arg1060Trp (1049) 7, 11, 22
27 M p.Leu1079Pro (1068) 11, 15
29 D/I c.3504del2bp 23
30 D/I p.del1222-1258 21
27 M p.Leu1079Pro (1068) 11, 15
29 D/I c.3504del2bp 23
30 D/I p.del1222-1258 21
27 M p.Leu1079Pro (1068) 11, 15
29 D/I c.3504del2bp 23
30 D/I p.del1222-1258 21



Cav1.2
Exon Type Loss-of-function Ref Exon Type Gain-of-function Ref Exon Type Unknown function Ref
2 M p.Ala39Val 1 8 M p.Gly402Ser 4 19 D/I p.Glu850del 2
10 M p.Gly490Arg 1 8 M p.Gly406Arg 4 26 M p.Glu1115Lys 2
43 Dupl p.Glu1829_Gln 1833dupl 2 8A M p.Gly406Arg 3, 5 42/43 M p.Cys1837Tyr 2
46 M p.Val2041Ile 2



Cav1.3
Exon Type Loss-of-function Ref
8B D/I p.403_404insGly (c.1208_1209insGGG) 6