Table 1.

List of Ca_V2.1 mutations causing EA2.

No.	Amino Acid	DNA Mutation	References
1	p.(Ala56Serfs*20)	c.165dupA	[4]
2	p.Glu147Lys	c.439G>A	[27]
3	p.Gly162Val	c.485G>T	[28]
4	p.(Trp168Glyfs*10)	c.504delC	[4]
5	p.Arg192Trp	c.574C>T	[29]
6	p.Arg198Gln	c.593G>A	[30]
7		c.868+5G>A; possible aberrant splicing	[16]
8	p.Ser218Leu	c.653C>T	[30]
9	p.Tyr248Asn/Cys	c.742T>A/c.743A>G	[31,32]
10	p.Gly250Glufs*60	c.749delG	[12]
11	p.His253Tyr	c.1032C >T	[33]
12	p.(Cys256Arg)	c.1041T>C	[34]
13		c.983-1G>A; aberrant splicing	[4]
14	p.Arg279Cys	c.835C>T	[28]
15	p.Cys287Tyr	c.1096G>A	[1]
16	p.Gly293Arg	c.1152G>A	[35]
17	p.Gly297Arg	c.889G>A	[36]
18	p.Asp302Asn	c.904G>A	[28]
19	p.Thr310 fs*5	c.928_931delACTG	[28]
20	p.Trp320*	c.959G>A	[12]
21	p.Arg387Gly	c.1159C>G	[28]
22	p.Glu388Lys	c.1161G>A	[37]
23	p.(Leu389Phe)	c.1165C>T	[4]
24	p.Gly411Trp	c.1231G>T	[28]
25		c.1253+1G>A; probable aberrant splicing	[15]
26	p.Ala454Thr	c.1360G>A	[38]
27	p.Arg455Gln	c.1364G>A	[39]
28	p.(Thr501Met)	c.1502C>T	[4]
29		c.1557+1G>A; aberrant splicing	[13]
30	p.Glu533Lys	c.1597G>A	[40]
31	p.Gly540Arg	c.1618G>A	[41]
32	p.Val558Serfs*13	c.1672-1_1675delGGTTA	[28]
33	p.Leu600 fs*41	c.1799_1800delTC	[28]
34	p.Leu621Arg	c.2144T>G	[41]
35	p.Leu624Phe	c.1870-1873del	[13]
36	p.Gly638Asp	c.1913G>A	[42]
37	p.Trp670Cys	c.2010G>C	[30]
38	p.Gly677Glu	c.2030G>A	[31]
39	p.(Gln681Argfs*100)	c.2042_2043del	[33]
40	p.Ile712Val	c.2134A>G	[43]
41	p.Gln736*	c.2206C>T	[44]
42	p.(Met798Thr)	c.2393T>C	[4]
43	p.(Arg822Profs*246)	c.2464dupC	[4]
44	p.(Pro897Arg)	c.2690C>G	[4]
45	p.Gly939*	c.2816delG	[45]
46	p.Ser943Gln	c.2825+1insG	[46]
47	p.(Ala952Serfs*115)	c.2852_2861del	[4]
48	p.(Arg957Aspfs*113)	c.2867_2869del	[16]
49	p.Glu1004Argfs*66	c.3244+1insG	[1]
50	p.Glu998Gln	c.2992G>C	[31]
51	p.Gln1154*	c.3460C>T	[45]
52	p.Cys1178Pro	c.3531delC	[13]
53		c.3089+2T; possible aberrant splicing	[17]
53a		c.3102+2T; possible aberrant splicing	[30]
54		c.3603dupC	[30]
55		c.3977+1G>A; aberrant splicing	[14]
56	p.Pro1267Leu	c.4073delC	[6]
57	p.(Arg1278*)	c.3832C<T	[16]
58	p.Arg1281*	c.4077C>T	[1]
59	p.Glu1294Del	c.3871_3873delGAG	[31]
60		c.4270+1G>A; aberrant splicing	[6]
61		c.4001+3insT; cryptic splice donor site in exon 24	[18]
62	p.Arg1350Gln	c.4049G>A	[47]
63	p.Phe1394Leu	c.4182delC	[33]
64	p.Phe1404Cys	c.4486T>G	[48]
65		c.4261+1G>A; aberrant splicing	[13]
66	p.Arg1433Gln	c.4298G>A	[49]
67	p.Tyr1443*	c.4331C>G	[13]
68	p.Trp1451*	c.4588G>A	[1]
69		c.4636+1G>T; aberrant splicing	[1]
70	p.(Gly1483Arg)	c.4722G>A	[34]
71	p.Met1488_Ser1489del	c.4739_4744del	[34]
72	p.Phe1491Ser	c.4747T>C	[50]
73	p.(Val1494Ile)	c.4755G>A	[34]
74	p.Phe1503Del	c.4509-11delCTT	[13]
75	p.Arg1549*	c.4645C>T	[51]
76	p.Gln1561*	c.4963C>T	[52]
77	p.Tyr1594Del	c.4778-80delCTT	[13]
78	p.Val1620Ser	c.4854delG	[46]
79	p.Arg1666His/Gln	c.5260G>A/c.4991G>A	[53,54]
80	p.Arg1669*	c.5005C>T	[31]
81	p.(Arg1680Cys)	c.5038C>T	[4]
82	p.His1737Leu	c.5211A>T	[55]
83	p.Leu1749Pro	c.5246T>C	[28]
84	p.Arg1751Trp	c.5251C>T	[45]
85	p.Ser1753Cysfs*2	c.5253-2259_5403+1135del	[12]
86	p.Glu1757Lys	c.5271G>A	[56]
87	p.Arg1785*	c.5589C>T	[1]
88	p.Ser1799Leu	c.5396C>T	[57]
89	p.Arg1824*	c.5733C>T	[58]
90		c.IVS36+2T>C (c.4582+2T>C); possible aberrant splicing	[19]
91	p.Tyr1849*	c.5547T>A	[12]
92	p.Tyr1854*	c.5562C>G	[26]
93	p.Arg1858*	c.5571C>T	[26]
94	p.(Cys1870Arg)	c.5608T>C	[4]
95	p.(Glu1927*)	c.5779G>T	[4]
96		c.IVS41+(3–6)delGAGT (c.6068+(3-6)delGAGT); aberrant splicing	[18]
96a		c.6335+4delAGTG; aberrant splicing	[14]
97	p.Gln1986*	c.5956C>T	[31]
98	p.Gln2039*	c.6351C>T	[1]
99	p.Pro2058Leufs*69	c.6404delC	[1]
100	p.Arg2090Gln	c.6269G>A	[59]
101	p.(Arg2136Cys)	c.6681C>T	[34]
102	p.Pro2222Leu	c.6665C>T	[12]
103	p.2319Gln[n]	c.7191CAG[n]	[60]

Note: For most mutations, the numbering is as cited in the original publications. If not present in the original publication it refers to the translated region of the GeneBank access number AF004883.1. The asterisk (*) indicates a stop codon.