No paralogue variants have been mapped to residue 1493 for SCN5A.
SCN5A | NLFIGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1506 |
SCN1A | NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1519 |
SCN2A | NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1509 |
SCN3A | NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1504 |
SCN4A | NLFIGVIIDNFNQQKKKLGGKDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1331 |
SCN7A | SMLITVIIDNFNKHKIKLGGSNIFITVKQR>K<QY------RRL---KK-L----M-YEDS-- | 1229 |
SCN8A | NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1500 |
SCN9A | NLFIGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1482 |
SCN10A | NLFVGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1454 |
SCN11A | NLFIGVIIDNFNQQQKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP-- | 1344 |
CACNA1A | NIFVALIIITFQEQGDKM----MEEYSLEK>N<ER------ACI---DFAI------SAKP-- | 1543 |
CACNA1B | NIFVALIIITFQEQGDKV----MSECSLEK>N<ER------ACI---DFAI------SAKP-- | 1449 |
CACNA1C | NIFVGFVIVTFQEQGEQE----YKNCELDK>N<QR------QCV---EYAL------KARP-- | 1198 |
CACNA1D | NIFVGFVIVTFQEQGEKE----YKNCELDK>N<QR------QCV---EYAL------KARP-- | 1204 |
CACNA1E | NIFVALIIITFQEQGDKM----MEECSLEK>N<ER------ACI---DFAI------SAKP-- | 1455 |
CACNA1F | NIFVGFVIITFRAQGEQE----YQNCELDK>N<QR------QCV---EYAL------KAQP-- | 1169 |
CACNA1G | NMFVGVVVENFHKCRQHQEEEEARRREEKR>L<RRLEKKRRNLML--DDVI-----ASGSSAS | 1583 |
CACNA1H | NMFVGVVVENFHKCRQHQEAEEARRREEK->-<--------RLRRLERRRRSTFPSPEAQ--- | 1595 |
CACNA1I | NMFVGVVVENFHKCRQHQEAEEARRREEK->-<--------RLRRLEKKRR------KAQ--- | 1465 |
CACNA1S | NIFVGFVIVTFQEQGETE----YKNCELDK>N<QR------QCV---QYAL------KARP-- | 1097 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1493R | c.4478A>G | Inherited Arrhythmia | LQTS,AF | rs199473260 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | AF | 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 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 |