Paralogue Annotation for SCN5A residue 816

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 816
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 816

No paralogue variants have been mapped to residue 816 for SCN5A.



SCN5ALSLMELGLSRMS-----NLSVLRSFRLLRV>F<KLAKSWPTLNTLIKIIGNSVGALGNLTLVL846
SCN1ALSLVELGLANVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL897
SCN2ALSLMELGLANVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL888
SCN3ALSLMELGLSNVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL889
SCN4ALSLVELGLANVQ-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL707
SCN7AHGLIELCLANVA-----GMALLRLFRMLRI>F<KLGKYWPTFQILMWSLSNSWVALKDLVLLL634
SCN8ALSLMELSLADVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL882
SCN9ALSLVELFLADVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL862
SCN10AVSLLELGVAKKG-----SLSVLRSFRLLRV>F<KLAKSWPTLNTLIKIIGNSVGALGNLTIIL794
SCN11ALSFADVMNCVLQKR---SWPFLRSFRVLRV>F<KLAKSWPTLNTLIKIIGNSVGALGSLTVVL708
CACNA1AGSIFEVIWAVIKPGTSFGISVLRALRLLRI>F<KVTKYWASLRNLVVSLLNSMKSIISLLFLL621
CACNA1BGSVFEVVWAAIKPGSSFGISVLRALRLLRI>F<KVTKYWSSLRNLVVSLLNSMKSIISLLFLL617
CACNA1CGGILETILVETKIMSPLGISVLRCVRLLRI>F<KITRYWNSLSNLVASLLNSVRSIASLLLLL658
CACNA1DGGITETILVELEIMSPLGISVFRCVRLLRI>F<KVTRHWTSLSNLVASLLNSMKSIASLLLLL677
CACNA1EGSIFEVVWAIFRPGTSFGISVLRALRLLRI>F<KITKYWASLRNLVVSLMSSMKSIISLLFLL610
CACNA1FGGILETTLVEVGAMQPLGISVLRCVRLLRI>F<KVTRHWASLSNLVASLLNSMKSIASLLLLL663
CACNA1GISVWEIVGQQGG-----GLSVLRTFRLMRV>L<KLVRFLPALQRQLVVLMKTMDNVATFCMLL872
CACNA1HISVWEIVGQADG-----GLSVLRTFRLLRV>L<KLVRFLPALRRQLVVLVKTMDNVATFCTLL922
CACNA1IISIWEIVGQADG-----GLSVLRTFRLLRV>L<KLVRFMPALRRQLVVLMKTMDNVATFCMLL769
CACNA1SSGILEILLVESGAMTPLGISVLRCIRLLRI>F<KITKYWTSLSNLVASLLNSIRSIASLLLLL566
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F816Yc.2447T>A Inherited ArrhythmiaLQTSrs199473162SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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