No paralogue variants have been mapped to residue 816 for SCN5A.
SCN5A | LSLMELGLSRMS-----NLSVLRSFRLLRV>F<KLAKSWPTLNTLIKIIGNSVGALGNLTLVL | 846 |
SCN1A | LSLVELGLANVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL | 897 |
SCN2A | LSLMELGLANVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL | 888 |
SCN3A | LSLMELGLSNVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL | 889 |
SCN4A | LSLVELGLANVQ-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL | 707 |
SCN7A | HGLIELCLANVA-----GMALLRLFRMLRI>F<KLGKYWPTFQILMWSLSNSWVALKDLVLLL | 634 |
SCN8A | LSLMELSLADVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL | 882 |
SCN9A | LSLVELFLADVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL | 862 |
SCN10A | VSLLELGVAKKG-----SLSVLRSFRLLRV>F<KLAKSWPTLNTLIKIIGNSVGALGNLTIIL | 794 |
SCN11A | LSFADVMNCVLQKR---SWPFLRSFRVLRV>F<KLAKSWPTLNTLIKIIGNSVGALGSLTVVL | 708 |
CACNA1A | GSIFEVIWAVIKPGTSFGISVLRALRLLRI>F<KVTKYWASLRNLVVSLLNSMKSIISLLFLL | 621 |
CACNA1B | GSVFEVVWAAIKPGSSFGISVLRALRLLRI>F<KVTKYWSSLRNLVVSLLNSMKSIISLLFLL | 617 |
CACNA1C | GGILETILVETKIMSPLGISVLRCVRLLRI>F<KITRYWNSLSNLVASLLNSVRSIASLLLLL | 658 |
CACNA1D | GGITETILVELEIMSPLGISVFRCVRLLRI>F<KVTRHWTSLSNLVASLLNSMKSIASLLLLL | 677 |
CACNA1E | GSIFEVVWAIFRPGTSFGISVLRALRLLRI>F<KITKYWASLRNLVVSLMSSMKSIISLLFLL | 610 |
CACNA1F | GGILETTLVEVGAMQPLGISVLRCVRLLRI>F<KVTRHWASLSNLVASLLNSMKSIASLLLLL | 663 |
CACNA1G | ISVWEIVGQQGG-----GLSVLRTFRLMRV>L<KLVRFLPALQRQLVVLMKTMDNVATFCMLL | 872 |
CACNA1H | ISVWEIVGQADG-----GLSVLRTFRLLRV>L<KLVRFLPALRRQLVVLVKTMDNVATFCTLL | 922 |
CACNA1I | ISIWEIVGQADG-----GLSVLRTFRLLRV>L<KLVRFMPALRRQLVVLMKTMDNVATFCMLL | 769 |
CACNA1S | SGILEILLVESGAMTPLGISVLRCIRLLRI>F<KITKYWTSLSNLVASLLNSIRSIASLLLLL | 566 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F816Y | c.2447T>A | Inherited Arrhythmia | LQTS | rs199473162 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
Inherited Arrhythmia | LQTS | Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3. 27287068 |