| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN10A | V94G | Atrial fibrillation | High | 4 | 25691686, 25691686 |
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 | LYGNPPQELIGEPLEDLDPFYSTQK-TFI->V<LNKGKTIFRFSATNALYVLSPFHPIRRAAV | 125 |
| SCN1A | IYGDIPPEMVSEPLEDLDPYYINKK-TFI->V<LNKGKAIFRFSATSALYILTPFNPLRKIAI | 122 |
| SCN2A | IYGDIPPEMVSVPLEDLDPYYINKK-TFI->V<LNKGKAISRFSATPALYILTPFNPIRKLAI | 123 |
| SCN3A | IYGDIPPEMVSEPLEDLDPYYINKK-TFI->V<MNKGKAIFRFSATSALYILTPLNPVRKIAI | 122 |
| SCN4A | IYGDPPPEVIGIPLEDLDPYYSNKK-TFI->V<LNKGKAIFRFSATPALYLLSPFSVVRRGAI | 125 |
| SCN7A | IYGNLSQGMVSEPLEDVDPYYYKKKNTFI->V<LNKNRTIFRFNAASILCTLSPFNCIRRTTI | 112 |
| SCN8A | IYGDIPQGLVAVPLEDFDPYYLTQK-TFV->V<LNRGKTLFRFSATPALYILSPFNLIRRIAI | 126 |
| SCN9A | IYGDIPPGMVSEPLEDLDPYYADKK-TFI->V<LNKGKTIFRFNATPALYMLSPFSPLRRISI | 120 |
| SCN10A | FYGELPAELIGEPLEDLDPFYSTHR-TFM->V<LNKGRTISRFSATRALWLFSPFNLIRRTAI | 124 |
| SCN11A | LYGDIPRELIGKPLEDLDPFYRNHK-TFM->V<LNRKRTIYRFSAKHALFIFGPFNSIRSLAI | 123 |
| CACNA1A | A-----------QRMYKQSMAQRARTMAL->Y<NPIPVRQNCLTVNRSLFLFSEDNVVRKYAK | 92 |
| CACNA1B | Q-----------RVLYKQSIAQRARTMAL->Y<NPIPVKQNCFTVNRSLFVFSEDNVVRKYAK | 89 |
| CACNA1C | RQAKLMGSAGNATISTVSST-QRKRQQYG->K<PKKQGSTTATRPPRALLCLTLKNPIRRACI | 118 |
| CACNA1D | RQAKAAQTMSTSAPPPVGSLSQRKRQQYA->K<SKKQGNSSNSRPARALFCLSLNNPIRRACI | 120 |
| CACNA1E | Q-----------AAAYKQTKAQRARTMAL->Y<NPIPVRQNCFTVNRSLFIFGEDNIVRKYAK | 83 |
| CACNA1F | V--------EGESSGASGLGTPKRRNQHS->K<HKTVAVASAQRSPRALFCLTLANPLRRSCI | 86 |
| CACNA1G | -----------PGSA-------EKDPG-SA>D<SEAEGLPYPALAPVVFFYLSQDSRPRSWCL | 75 |
| CACNA1H | -----------P-AA-------ERGAELG->A<DEEQRVPYPALAATVFFCLGQTTRPRSWCL | 94 |
| CACNA1I | -----------SPPG-------LEEPL-D->G<-ADPHVPHPDLAPIAFFCLRQTTSPRNWCI | 73 |
| CACNA1S | ------------------SSPQDEGLRKK->Q<PKKPVPEILPRPPRALFCLTLENPLRKACI | 45 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V95I | c.283G>A | Inherited Arrhythmia | BrS | rs199473054 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. Zhonghua Xin Xue Guan Bing Za Zhi. 2006 34(7):616-9. 17081365 | ||
| Inherited Arrhythmia | BrS | Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese. J Cardiovasc Dis Res. 2010 1(2):69-74. 20877689 | |||
| Inherited Arrhythmia | BrS | Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. Front Physiol. 2013 4:153. doi: 10.3389/fphys.2013.00153. eCollection 23805106 | |||
| p.V95L | c.283G>C | Putative Benign | SIFT: Polyphen: | ||