Paralogue Annotation for SCN5A residue 1493

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1493
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1493

No paralogue variants have been mapped to residue 1493 for SCN5A.



SCN5ANLFIGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1506
SCN1ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1519
SCN2ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1509
SCN3ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1504
SCN4ANLFIGVIIDNFNQQKKKLGGKDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1331
SCN7ASMLITVIIDNFNKHKIKLGGSNIFITVKQR>K<QY------RRL---KK-L----M-YEDS--1229
SCN8ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1500
SCN9ANLFIGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1482
SCN10ANLFVGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1454
SCN11ANLFIGVIIDNFNQQQKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1344
CACNA1ANIFVALIIITFQEQGDKM----MEEYSLEK>N<ER------ACI---DFAI------SAKP--1543
CACNA1BNIFVALIIITFQEQGDKV----MSECSLEK>N<ER------ACI---DFAI------SAKP--1449
CACNA1CNIFVGFVIVTFQEQGEQE----YKNCELDK>N<QR------QCV---EYAL------KARP--1198
CACNA1DNIFVGFVIVTFQEQGEKE----YKNCELDK>N<QR------QCV---EYAL------KARP--1204
CACNA1ENIFVALIIITFQEQGDKM----MEECSLEK>N<ER------ACI---DFAI------SAKP--1455
CACNA1FNIFVGFVIITFRAQGEQE----YQNCELDK>N<QR------QCV---EYAL------KAQP--1169
CACNA1GNMFVGVVVENFHKCRQHQEEEEARRREEKR>L<RRLEKKRRNLML--DDVI-----ASGSSAS1583
CACNA1HNMFVGVVVENFHKCRQHQEAEEARRREEK->-<--------RLRRLERRRRSTFPSPEAQ---1595
CACNA1INMFVGVVVENFHKCRQHQEAEEARRREEK->-<--------RLRRLEKKRR------KAQ---1465
CACNA1SNIFVGFVIVTFQEQGETE----YKNCELDK>N<QR------QCV---QYAL------KARP--1097
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1493Rc.4478A>G Inherited ArrhythmiaLQTS,AFSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaAF Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing. Biochem Biophys Res Commun. 2009 380(1):132-7. 19167345
Inherited 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