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.