No paralogue variants have been mapped to residue 1786 for SCN5A.
| SCN5A | IIISFLIVVNMYIAIILENFSVATEESTEP>L<SEDDFDMFYEIWEKFDPEATQFIEYSVLSD | 1816 |
| SCN1A | IIISFLVVVNMYIAVILENFSVATEESAEP>L<SEDDFEMFYEVWEKFDPDATQFMEFEKLSQ | 1830 |
| SCN2A | IIISFLVVVNMYIAVILENFSVATEESAEP>L<SEDDFEMFYEVWEKFDPDATQFIEFAKLSD | 1820 |
| SCN3A | IIISFLVVVNMYIAVILENFSVATEESAEP>L<SEDDFEMFYEVWEKFDPDATQFIEFSKLSD | 1815 |
| SCN4A | IIISFLIVVNMYIAIILENFNVATEESSEP>L<GEDDFEMFYETWEKFDPDATQFIAYSRLSD | 1642 |
| SCN7A | ILISWLIIVNMYIVVVMEFLNIASKKKNKT>L<SEDDFRKFFQVWKRFDPDRTQYIDSSKLSD | 1540 |
| SCN8A | IIISFLIVVNMYIAIILENFSVATEESADP>L<SEDDFETFYEIWEKFDPDATQFIEYCKLAD | 1810 |
| SCN9A | IIISFLVVVNMYIAVILENFSVATEESTEP>L<SEDDFEMFYEVWEKFDPDATQFIEFSKLSD | 1793 |
| SCN10A | IIISFLIMVNMYIAVILENFNVATEESTEP>L<SEDDFDMFYETWEKFDPEATQFITFSALSD | 1766 |
| SCN11A | IIISFLIVVNMYIAVILENFNTATEESEDP>L<GEDDFDIFYEVWEKFDPEATQFIKYSALSD | 1648 |
| CACNA1A | IFLCSFLMLNLFVAVIMDNFEYLTRDSSI->L<GPHHLDEYVRVWAEYDPAACGRIHYKDMYS | 1854 |
| CACNA1B | IFLCSFLMLNLFVAVIMDNFEYLTRDSSI->L<GPHHLDEFIRVWAEYDPAACGRISYNDMFE | 1752 |
| CACNA1C | YMLCAFLIINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKRIWAEYDPEAKGRIKHLDVVT | 1519 |
| CACNA1D | YMLCAFLIINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKRIWSEYDPEAKGRIKHLDVVT | 1527 |
| CACNA1E | IFFCSFLMLNLFVAVIMDNFEYLTRDSSI->L<GPHHLDEFVRVWAEYDRAACGRIHYTEMYE | 1766 |
| CACNA1F | FMLCAFLIINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKRIWSEYDPGAKGRIKHLDVVA | 1484 |
| CACNA1G | VLTAQFVLVNVVIAVLMKHLEESNKEAKE->-<-EAELEAELELEMKT-LSPQPHSPLGSPF- | 1890 |
| CACNA1H | VLVAQFVLVNVVVAVLMKHLEESNKEARE->-<-DAELDAEIELEMAQGPGSARRVDADRP-- | 1899 |
| CACNA1I | VLTAQFVLINVVVAVLMKHLDDSNKEAQE->-<-DAEMDAELELEMAHGLGPGPRLPTGSPGA | 1771 |
| CACNA1S | YMLCAFLVINLFVAVIMDNFDYLTRDWSI->L<GPHHLDEFKAIWAEYDPEAKGRIKHLDVVT | 1424 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L1786Q | c.5357T>A | Inherited Arrhythmia | LQTS,BrS | rs199473315 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11. 16712702 | ||
| Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
| Inherited Arrhythmia | LQTS | Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A. Circ J. 2014 78(5):1136-43. 24599044 | |||