No paralogue variants have been mapped to residue 1494 for SCN5A.
SCN5A | LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1506 |
SCN1A | LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1519 |
SCN2A | LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1509 |
SCN3A | LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1504 |
SCN4A | LFIGVIIDNFNQQKKKLGGKDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1331 |
SCN7A | MLITVIIDNFNKHKIKLGGSNIFITVKQRK>Q<Y------RRL---KK-L----M-YEDS--- | 1229 |
SCN8A | LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1500 |
SCN9A | LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1482 |
SCN10A | LFVGVIIDNFNQQKKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1454 |
SCN11A | LFIGVIIDNFNQQQKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP--- | 1344 |
CACNA1A | IFVALIIITFQEQGDKM----MEEYSLEKN>E<R------ACI---DFAI------SAKP--- | 1543 |
CACNA1B | IFVALIIITFQEQGDKV----MSECSLEKN>E<R------ACI---DFAI------SAKP--- | 1449 |
CACNA1C | IFVGFVIVTFQEQGEQE----YKNCELDKN>Q<R------QCV---EYAL------KARP--- | 1198 |
CACNA1D | IFVGFVIVTFQEQGEKE----YKNCELDKN>Q<R------QCV---EYAL------KARP--- | 1204 |
CACNA1E | IFVALIIITFQEQGDKM----MEECSLEKN>E<R------ACI---DFAI------SAKP--- | 1455 |
CACNA1F | IFVGFVIITFRAQGEQE----YQNCELDKN>Q<R------QCV---EYAL------KAQP--- | 1169 |
CACNA1G | MFVGVVVENFHKCRQHQEEEEARRREEKRL>R<RLEKKRRNLML--DDVI-----ASGSSASA | 1584 |
CACNA1H | MFVGVVVENFHKCRQHQEAEEARRREEK-->-<-------RLRRLERRRRSTFPSPEAQ---- | 1595 |
CACNA1I | MFVGVVVENFHKCRQHQEAEEARRREEK-->-<-------RLRRLEKKRR------KAQ---- | 1465 |
CACNA1S | IFVGFVIVTFQEQGETE----YKNCELDKN>Q<R------QCV---QYAL------KARP--- | 1097 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y1494N | c.4480T>A | Inherited Arrhythmia | BrS | rs199473261 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | BrS | [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]. Zhonghua Xin Xue Guan Bing Za Zhi. 2007 35(12):1122-5. 18341814 |