| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | A1441P | Myoclonic epilepsy of infancy | High | 9 | 17347258, 23895530 |
| SCN1A | A1441T | Dravet syndrome | High | 9 | 25459968 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.
| SCN5A | VKVNFDNVGAGYLALLQVATFKGWMDIMYA>A<VDSRGYEEQPQWEYNLYMYIYFVIFIIFGS | 1458 |
| SCN1A | VKVNFDNVGFGYLSLLQVATFKGWMDIMYA>A<VDSRNVELQPKYEESLYMYLYFVIFIIFGS | 1471 |
| SCN2A | VKVNFDNVGLGYLSLLQVATFKGWMDIMYA>A<VDSRNVELQPKYEDNLYMYLYFVIFIIFGS | 1461 |
| SCN3A | VKVNFDNVGAGYLALLQVATFKGWMDIMYA>A<VDSRDVKLQPVYEENLYMYLYFVIFIIFGS | 1456 |
| SCN4A | VKVNYDNVGLGYLSLLQVATFKGWMDIMYA>A<VDSREKEEQPQYEVNLYMYLYFVIFIIFGS | 1283 |
| SCN7A | AKMNFDNVGNGFLSLLQVATFNGWITIMNS>A<IDSVAVNIQPHFEVNIYMYCYFINFIIFGV | 1181 |
| SCN8A | VKINFDNVGAGYLALLQVATFKGWMDIMYA>A<VDSRKPDEQPKYEDNIYMYIYFVIFIIFGS | 1452 |
| SCN9A | LKVNFDNVGLGYLSLLQVATFKGWTIIMYA>A<VDSVNVDKQPKYEYSLYMYIYFVVFIIFGS | 1434 |
| SCN10A | VKVNFDNVAMGYLALLQVATFKGWMDIMYA>A<VDSREVNMQPKWEDNVYMYLYFVIFIIFGG | 1406 |
| SCN11A | QKVNFDNVGNAYLALLQVATFKGWMDIIYA>A<VDSTEKEQQPEFESNSLGYIYFVVFIIFGS | 1296 |
| CACNA1A | YEFHYDNVLWALLTLFTVSTGEGWPQVLKH>S<VDATFENQGPSPGYRMEMSIFYVVYFVVFP | 1499 |
| CACNA1B | YDFHYDNVLWALLTLFTVSTGEGWPMVLKH>S<VDATYEEQGPSPGYRMELSIFYVVYFVVFP | 1405 |
| CACNA1C | SKFDFDNVLAAMMALFTVSTFEGWPELLYR>S<IDSHTEDKGPIYNYRVEISIFFIIYIIIIA | 1154 |
| CACNA1D | SDFNFDNVLSAMMALFTVSTFEGWPALLYK>A<IDSNGENIGPIYNHRVEISIFFIIYIIIVA | 1160 |
| CACNA1E | HEFHYDNIIWALLTLFTVSTGEGWPQVLQH>S<VDVTEEDRGPSRSNRMEMSIFYVVYFVVFP | 1411 |
| CACNA1F | SDFNFDNVLSAMMALFTVSTFEGWPALLYK>A<IDAYAEDHGPIYNYRVEISVFFIVYIIIIA | 1125 |
| CACNA1G | HKYNFDNLGQALMSLFVLASKDGWVDIMYD>G<LDAVGVDQQPIMNHNPWMLLYFISFLLIVA | 1525 |
| CACNA1H | RKYNFDNLGQALMSLFVLSSKDGWVNIMYD>G<LDAVGVDQQPVQNHNPWMLLYFISFLLIVS | 1543 |
| CACNA1I | HKYNFDNLGQALMSLFVLASKDGWVNIMYN>G<LDAVAVDQQPVTNHNPWMLLYFISFLLIVS | 1419 |
| CACNA1S | SDFHFDNVLSAMMSLFTVSTFEGWPQLLYK>A<IDSNAEDVGPIYNNRVEMAIFFIIYIILIA | 1053 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1428V | c.4283C>T | Inherited Arrhythmia | BrS | rs199473612 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||
| Inherited Arrhythmia | BrS | Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861 | |||
| p.A1428S | c.4282G>T | Inherited Arrhythmia | LQTS,BrS | rs200034939 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1. Heart Rhythm. 2013 10(4):600-3. doi: 10.1016/j.hrthm.2012.12.008. 23237912 | ||
| Inherited Arrhythmia | BrS | Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification. Eur J Hum Genet. 2013 21(9):911-7. doi: 10.1038/ejhg.2012.289. 23321620 | |||
| Inherited Arrhythmia | LQTS | Novel heterozygous mutation c.4282G>T in the SCN5A gene in a family with Brugada syndrome. Exp Ther Med. 2015 9(5):1639-1645. 26136871 | |||
| Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||