| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | D366E | Myoclonic epilepsy of infancy | High | 9 | 18413471 |
| CACNA1A | D302N | Spinocerebellar ataxia 6 | High | 9 | 24486772 |
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 | SSDAG-T-C-PEGYRCLKAGENPDHGYTSF>D<SFAWAFLALFRLMTQDCWERLYQQTLRSAG | 386 |
| SCN1A | SSDAG-Q-C-PEGYMCVKAGRNPNYGYTSF>D<TFSWAFLSLFRLMTQDFWENLYQLTLRAAG | 396 |
| SCN2A | SSDAG-Q-C-PEGYICVKAGRNPNYGYTSF>D<TFSWAFLSLFRLMTQDFWENLYQLTLRAAG | 398 |
| SCN3A | GSDAG-Q-C-PEGYICVKAGRNPNYGYTSF>D<TFSWAFLSLFRLMTQDYWENLYQLTLRAAG | 397 |
| SCN4A | SSDAG-H-C-PEGYECIKTGRNPNYGYTSY>D<TFSWAFLALFRLMTQDYWENLFQLTLRAAG | 420 |
| SCN7A | RTDAG-Q-C-PEGYVCVKAGINPDQGFTNF>D<SFGWALFALFRLMAQDYPEVLYHQILYASG | 367 |
| SCN8A | SSDAG-Q-C-PEGYQCMKAGRNPNYGYTSF>D<TFSWAFLALFRLMTQDYWENLYQLTLRAAG | 384 |
| SCN9A | STDSG-Q-C-PEGYTCVKIGRNPDYGYTSF>D<TFSWAFLALFRLMTQDYWENLYQQTLRAAG | 375 |
| SCN10A | GSDSG-H-C-PDGYICLKTSDNPDFNYTSF>D<SFAWAFLSLFRLMTQDSWERLYQQTLRTSG | 370 |
| SCN11A | WMGNS-A-C-SIQYECKHTKINPDYNYTNF>D<NFGWSFLAMFRLMTQDSWEKLYQQTLRTTG | 373 |
| CACNA1A | EEPA-RT-C-PNGTKCQPYWEGPNNGITQF>D<NILFAVLTVFQCITMEGWTDLLYNSNDASG | 332 |
| CACNA1B | EAPA-RL-C-EGDTECREYWPGPNFGITNF>D<NILFAILTVFQCITMEGWTDILYNTNDAAG | 328 |
| CACNA1C | ETGHGRQ-CQN-GTVCKPGWDGPKHGITNF>D<NFAFAMLTVFQCITMEGWTDVLYWVNDAVG | 377 |
| CACNA1D | SGNGR-Q-CTANGTECRSGWVGPNGGITNF>D<NFAFAMLTVFQCITMEGWTDVLYWVNDAIG | 378 |
| CACNA1E | QG------C-PAGYEC-KDWIGPNDGITQF>D<NILFAVLTVFQCITMEGWTTVLYNTNDALG | 323 |
| CACNA1F | SGSGR-A-CTLNQTECRGRWPGPNGGITNF>D<NFFFAMLTVFQCVTMEGWTDVLYWMQDAMG | 344 |
| CACNA1G | SNTTC-VNWNQYYTNCSAGEHNPFKGAINF>D<NIGYAWIAIFQVITLEGWVDIMYFVMDAHS | 368 |
| CACNA1H | ARNAC-INWNQYYNVCRSGDSNPHNGAINF>D<NIGYAWIAIFQVITLEGWVDIMYYVMDAHS | 392 |
| CACNA1I | ASGLC-VNWNRYYNVCRTGSANPHKGAINF>D<NIGYAWIVIFQVITLEGWVEIMYYVMDAHS | 371 |
| CACNA1S | TGSGR-R-CTINGSECRGGWPGPNHGITHF>D<NFGFSMLTVYQCITMEGWTDVLYWVNDAIG | 306 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D356N | c.1066G>A | Inherited Arrhythmia | BrS | rs199473565 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. J Am Coll Cardiol. 2005 46(11):2100-6. 16325048 | ||
| 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 | |||
| Other Cardiac Phenotype | Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. Circulation. 2012 125(1):14-22. doi: 10.1161/CIRCULATIONAHA.111.0540 22090166 | ||||
| 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 | |||