No paralogue variants have been mapped to residue 1758 for SCN5A.
SCN5A | PN-S-NGSRGD---CGSPAVGILFFTTYII>I<SFLIVVNMYIAIILENFSVATEESTEPLSE | 1788 |
SCN1A | VN-PGSSVKGD---CGNPSVGIFFFVSYII>I<SFLVVVNMYIAVILENFSVATEESAEPLSE | 1802 |
SCN2A | DH-PGSSVKGD---CGNPSVGIFFFVSYII>I<SFLVVVNMYIAVILENFSVATEESAEPLSE | 1792 |
SCN3A | IH-PGSSVKGD---CGNPSVGIFFFVSYII>I<SFLVVVNMYIAVILENFSVATEESAEPLSE | 1787 |
SCN4A | EN-PGTSVKGD---CGNPSIGICFFCSYII>I<SFLIVVNMYIAIILENFNVATEESSEPLGE | 1614 |
SCN7A | IN-PGTQVRGD---CGNPSVGIFYFVSYIL>I<SWLIIVNMYIVVVMEFLNIASKKKNKTLSE | 1512 |
SCN8A | EH-PGSGFKGD---CGNPSVGIFFFVSYII>I<SFLIVVNMYIAIILENFSVATEESADPLSE | 1782 |
SCN9A | VH-PGSSVEGD---CGNPSVGIFYFVSYII>I<SFLVVVNMYIAVILENFSVATEESTEPLSE | 1765 |
SCN10A | PN-S-NGTRGD---CGSPAVGIIFFTTYII>I<SFLIMVNMYIAVILENFNVATEESTEPLSE | 1738 |
SCN11A | ------SSSEN---CHLPGIATSYFVSYII>I<SFLIVVNMYIAVILENFNTATEESEDPLGE | 1620 |
CACNA1A | GIL-----T-R--ECGN-EFAYFYFVSFIF>L<CSFLMLNLFVAVIMDNFEYLTRDSSI-LGP | 1826 |
CACNA1B | -Q------A-NATECGS-DFAYFYFVSFIF>L<CSFLMLNLFVAVIMDNFEYLTRDSSI-LGP | 1724 |
CACNA1C | EP-SNSTEGETP--CGS-SFAVFYFISFYM>L<CAFLIINLFVAVIMDNFDYLTRDWSI-LGP | 1491 |
CACNA1D | DY--NPGE-EYT--CGS-NFAIVYFISFYM>L<CAFLIINLFVAVIMDNFDYLTRDWSI-LGP | 1499 |
CACNA1E | TAPSGQNEN-E--RCGT-DLAYVYFVSFIF>F<CSFLMLNLFVAVIMDNFEYLTRDSSI-LGP | 1738 |
CACNA1F | DF--GPGE-EFT--CGS-NFAIAYFISFFM>L<CAFLIINLFVAVIMDNFDYLTRDWSI-LGP | 1456 |
CACNA1G | T-----C-------YNT-VISPIYFVSFVL>T<AQFVLVNVVIAVLMKHLEESNKEAKE---E | 1864 |
CACNA1H | KH----C---LS--YLP-ALSPVYFVTFVL>V<AQFVLVNVVVAVLMKHLEESNKEARE---D | 1873 |
CACNA1I | RS----C---LS--SLQ-FVSPLYFVSFVL>T<AQFVLINVVVAVLMKHLDDSNKEAQE---D | 1743 |
CACNA1S | DY--APGE-EYT--CGT-NFAYYYFISFYM>L<CAFLVINLFVAVIMDNFDYLTRDWSI-LGP | 1396 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1758V | c.5272A>G | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | LQTS | Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531 |