No paralogue variants have been mapped to residue 1790 for SCN5A.
| SCN5A | FLIVVNMYIAIILENFSVATEESTEPLSED>D<FDMFYEIWEKFDPEATQFIEYSVLSDFADA | 1820 |
| SCN1A | FLVVVNMYIAVILENFSVATEESAEPLSED>D<FEMFYEVWEKFDPDATQFMEFEKLSQFAAA | 1834 |
| SCN2A | FLVVVNMYIAVILENFSVATEESAEPLSED>D<FEMFYEVWEKFDPDATQFIEFAKLSDFADA | 1824 |
| SCN3A | FLVVVNMYIAVILENFSVATEESAEPLSED>D<FEMFYEVWEKFDPDATQFIEFSKLSDFAAA | 1819 |
| SCN4A | FLIVVNMYIAIILENFNVATEESSEPLGED>D<FEMFYETWEKFDPDATQFIAYSRLSDFVDT | 1646 |
| SCN7A | WLIIVNMYIVVVMEFLNIASKKKNKTLSED>D<FRKFFQVWKRFDPDRTQYIDSSKLSDFAAA | 1544 |
| SCN8A | FLIVVNMYIAIILENFSVATEESADPLSED>D<FETFYEIWEKFDPDATQFIEYCKLADFADA | 1814 |
| SCN9A | FLVVVNMYIAVILENFSVATEESTEPLSED>D<FEMFYEVWEKFDPDATQFIEFSKLSDFAAA | 1797 |
| SCN10A | FLIMVNMYIAVILENFNVATEESTEPLSED>D<FDMFYETWEKFDPEATQFITFSALSDFADT | 1770 |
| SCN11A | FLIVVNMYIAVILENFNTATEESEDPLGED>D<FDIFYEVWEKFDPEATQFIKYSALSDFADA | 1652 |
| CACNA1A | SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH>H<LDEYVRVWAEYDPAACGRIHYKDMYSLLRV | 1858 |
| CACNA1B | SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH>H<LDEFIRVWAEYDPAACGRISYNDMFEMLKH | 1756 |
| CACNA1C | AFLIINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKRIWAEYDPEAKGRIKHLDVVTLLRR | 1523 |
| CACNA1D | AFLIINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKRIWSEYDPEAKGRIKHLDVVTLLRR | 1531 |
| CACNA1E | SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH>H<LDEFVRVWAEYDRAACGRIHYTEMYEMLTL | 1770 |
| CACNA1F | AFLIINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKRIWSEYDPGAKGRIKHLDVVALLRR | 1488 |
| CACNA1G | QFVLVNVVIAVLMKHLEESNKEAKE---EA>E<LEAELELEMKT-LSPQPHSPLGSPF-LWPG | 1894 |
| CACNA1H | QFVLVNVVVAVLMKHLEESNKEARE---DA>E<LDAEIELEMAQGPGSARRVDADRP------ | 1899 |
| CACNA1I | QFVLINVVVAVLMKHLDDSNKEAQE---DA>E<MDAELELEMAHGLGPGPRLPTGSPGAPGR- | 1774 |
| CACNA1S | AFLVINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKAIWAEYDPEAKGRIKHLDVVTLLRR | 1428 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1790G | c.5369A>G | Inherited Arrhythmia | LQTS,BrS | rs199473317 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. Circ Res. 1998 83(2):141-6. 9686753 | ||
| Inherited Arrhythmia | LQTS | Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? Circulation. 2000 101(14):1698-706. 10758053 | |||
| Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | |||
| Inherited Arrhythmia | LQTS | Mutation-specific risk in two genetic forms of type 3 long QT syndrome. Am J Cardiol. 2010 105(2):210-3. 20102920 | |||
| Inherited Arrhythmia | LQTS | Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes. FEBS Lett. 2000 487(2):224-8. 11150514 | |||
| Inherited Arrhythmia | BrS | Novel Clinical Manifestation of the Known SCN5A D1790G Mutation. Cardiology. 2015 132(4):228-32. doi: 10.1159/000437089. 26304620 | |||
| p.D1790N | c.5368G>A | Other Cardiac Phenotype | SIFT: deleterious Polyphen: probably damaging | ||
| Reports | Other Cardiac Phenotype | Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A. Int J Cardiol. 2012 23200271 | |||