Table 1.

SCN5A paralogues

Paralogue	HGMD missense mutations	HGMD missense residues	SCN5A annotations	Major diseases
SCN1A	410	327	393	Epilepsy, Dravet syndrome, Hemiplegic migraine
SCN2A	26	26	24	Epilepsy, Neonatal-infantile seizures
SCN3A	1	1	1	Epilepsy
SCN4A	67	53	67	Hyperkalaemic periodic paralysis, myotonia, paramyotoniacongenita, periodic paralysis
SCN7A	0	0	0
SCN8A	1	1	1	Infantile epileptic encephalopathy
SCN9A	53	50	45	Congenital indifference to pain, primary erythermalgia, paroxysmal extreme pain disorder, Small fibre neuropathy
SCN10A	0	0	0
SCN11A	0	0	0
CACNA1A	63	61	54	Episodic ataxia 2, hemiplegic migraine
CACNA1B	0	0	0
CACNA1C	9	9	4	BrS, LQTS
CACNA1D	1	1	0
CACNA1E	1	1	0
CACNA1F	28	28	27	Night blindness
CACNA1G	2	2	0	Juvenile myoclonic epilepsy
CACNA1H	25	25	13	Epilepsy, autism spectrum disorder
CACNA1I	0	0	0
CACNA1S	13	8	13	Hypokalaemic periodic paralysis, malignant hyperthermia

Nineteen paralogues of SCN5A were used in this study, including voltage-gated sodium channels (SCN-A) and the homologous voltage-gated calcium channels. For each paralogue, the table shows the total number of distinct missense variants reported in HGMD, the number of distinct amino acid residues affected by these mutations and the number of mutations that were mapped to equivalent residues in SCN5A. Some of the most prominent diseases associated with these paralogue mutations are also highlighted: these are typically diseases attributable to abnormalities of membrane excitability in a range of tissues.

BrS, Brugada syndrome; HGMD, Human Gene Mutation Database; LQTS, long QT syndrome.