| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN8A | N1768D | Epileptic encephalopathy, infantile | High | 9 | 22365152, 25227913, 22365152 |
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 | SPAVGILFFTTYIIISFLIVVNMYIAIILE>N<FSVATEESTEPLSEDDFDMFYEIWEKFDPE | 1804 |
| SCN1A | NPSVGIFFFVSYIIISFLVVVNMYIAVILE>N<FSVATEESAEPLSEDDFEMFYEVWEKFDPD | 1818 |
| SCN2A | NPSVGIFFFVSYIIISFLVVVNMYIAVILE>N<FSVATEESAEPLSEDDFEMFYEVWEKFDPD | 1808 |
| SCN3A | NPSVGIFFFVSYIIISFLVVVNMYIAVILE>N<FSVATEESAEPLSEDDFEMFYEVWEKFDPD | 1803 |
| SCN4A | NPSIGICFFCSYIIISFLIVVNMYIAIILE>N<FNVATEESSEPLGEDDFEMFYETWEKFDPD | 1630 |
| SCN7A | NPSVGIFYFVSYILISWLIIVNMYIVVVME>F<LNIASKKKNKTLSEDDFRKFFQVWKRFDPD | 1528 |
| SCN8A | NPSVGIFFFVSYIIISFLIVVNMYIAIILE>N<FSVATEESADPLSEDDFETFYEIWEKFDPD | 1798 |
| SCN9A | NPSVGIFYFVSYIIISFLVVVNMYIAVILE>N<FSVATEESTEPLSEDDFEMFYEVWEKFDPD | 1781 |
| SCN10A | SPAVGIIFFTTYIIISFLIMVNMYIAVILE>N<FNVATEESTEPLSEDDFDMFYETWEKFDPE | 1754 |
| SCN11A | LPGIATSYFVSYIIISFLIVVNMYIAVILE>N<FNTATEESEDPLGEDDFDIFYEVWEKFDPE | 1636 |
| CACNA1A | N-EFAYFYFVSFIFLCSFLMLNLFVAVIMD>N<FEYLTRDSSI-LGPHHLDEYVRVWAEYDPA | 1842 |
| CACNA1B | S-DFAYFYFVSFIFLCSFLMLNLFVAVIMD>N<FEYLTRDSSI-LGPHHLDEFIRVWAEYDPA | 1740 |
| CACNA1C | S-SFAVFYFISFYMLCAFLIINLFVAVIMD>N<FDYLTRDWSI-LGPHHLDEFKRIWAEYDPE | 1507 |
| CACNA1D | S-NFAIVYFISFYMLCAFLIINLFVAVIMD>N<FDYLTRDWSI-LGPHHLDEFKRIWSEYDPE | 1515 |
| CACNA1E | T-DLAYVYFVSFIFFCSFLMLNLFVAVIMD>N<FEYLTRDSSI-LGPHHLDEFVRVWAEYDRA | 1754 |
| CACNA1F | S-NFAIAYFISFFMLCAFLIINLFVAVIMD>N<FDYLTRDWSI-LGPHHLDEFKRIWSEYDPG | 1472 |
| CACNA1G | T-VISPIYFVSFVLTAQFVLVNVVIAVLMK>H<LEESNKEAKE---EAELEAELELEMKT-LS | 1879 |
| CACNA1H | P-ALSPVYFVTFVLVAQFVLVNVVVAVLMK>H<LEESNKEARE---DAELDAEIELEMAQGPG | 1889 |
| CACNA1I | Q-FVSPLYFVSFVLTAQFVLINVVVAVLMK>H<LDDSNKEAQE---DAEMDAELELEMAHGLG | 1759 |
| CACNA1S | T-NFAYYYFISFYMLCAFLVINLFVAVIMD>N<FDYLTRDWSI-LGPHHLDEFKAIWAEYDPE | 1412 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N1774D | c.5320A>G | Inherited Arrhythmia | LQTS | rs199473633 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. Circ Arrhythm Electrophysiol. 2010 3(1):10-7. 19996378 | ||
| Inherited Arrhythmia | LQTS | Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench. J Cardiovasc Electrophysiol. 2014 25(1):66-73. doi: 10.1111/jce.12270. 24112685 | |||
| p.N1774S | c.5321A>G | Inherited Arrhythmia | BrS | rs199473313 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | BrS | [Relationship between congenital long QT syndrome and Brugada syndrome gene mutation]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 27(3):289-94. 16038262 | ||
| p.N1774H | c.5320A>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. Int J Legal Med. 2016 130(4):1011-21. doi: 10.1007/s00414-016-1317-4. 26846766 | |||