No paralogue variants have been mapped to residue 1177 for SCN5A.
SCN5A | -----------------EDCFTEGCVRR-C>P<CCAVDTTQAP---GKVWWRLRKTCYHIVEH | 1204 |
SCN1A | -----------------EACFTEGCVQR-F>K<CCQINVEEGR---GKQWWNLRRTCFRIVEH | 1217 |
SCN2A | -----------------EACFTEDCVRK-F>K<CCQISIEEGK---GKLWWNLRKTCYKIVEH | 1207 |
SCN3A | -----------------EACFTEGCIKK-F>P<FCQVSTEEGK---GKIWWNLRKTCYSIVEH | 1205 |
SCN4A | -----------------EECFTEACVQR-W>P<CLYVDISQGR---GKKWWTLRRACFKIVEH | 1030 |
SCN7A | -----------------SKHLKNGCRRG-S>S<LGQISGASKK---GKIWQNIRKTCCKIVEN | 933 |
SCN8A | -----------------DACFTEGCVQR-F>K<CCQVNIEEGL---GKSWWILRKTCFLIVEH | 1197 |
SCN9A | -----------------EACFTDGCVWR-F>S<CCQVNIESGK---GKIWWNIRKTCYKIVEH | 1180 |
SCN10A | -----------------DDCFTEGCIRH-C>P<CCKLDTTKSP---WDVGWQVRKTCYRIVEH | 1151 |
SCN11A | -----------------ERCLPKGFGCC-F>P<CCSVDKRKPP---WVIWWNLRKTCYQIVKH | 1055 |
CACNA1A | VQVNKNANPDPLPKKEEEKKEEEEDDRGED>G<PK-PMPPYSSMFILSTTNPLRRLCHYILNL | 1243 |
CACNA1B | VVPSGNVD---LESQAEGKKEVEADDVMRS>G<PR-PIVPYSSMFCLSPTNLLRRFCHYIVTM | 1150 |
CACNA1C | ---------H-----------------LKE>K<AV-PMPEASAFFIFSSNNRFRLQCHRIVND | 899 |
CACNA1D | ---------N-----------------MKE>K<IA-PIPEGSAFFILSKTNPIRVGCHKLINH | 905 |
CACNA1E | PLKEAEI----REDEEEVEKKKQKKEKRET>G<-K-AMVPHSSMFIFSTTNPIRRACHYIVNL | 1152 |
CACNA1F | ---------V-----------------PKE>K<VV-PIPEGSAFFCLSQTNPLRKGCHTLIHH | 870 |
CACNA1G | ---------R-----------------LP->A<CCLERDSWSAY-IFPPQSRFRLLCHRIITH | 1275 |
CACNA1H | ---------Y-----------------KP->Q<WCRSREAWALY-LFSPQNRFRVSCQKVITH | 1293 |
CACNA1I | ---------Y-----------------KP->D<WCEVREDWSVY-LFSPENRFRVLCQTIIAH | 1169 |
CACNA1S | ---------Q-----------------LKE>K<AV-PIPEASSFFIFSPTNKIRVLCHRIVNA | 798 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1177L | c.3530C>T | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | LQTS | The Prevalence of Mutations in KCNQ1, KCNH2, and SCN5A in an Unselected National Cohort of Young Sudden Unexplained Death Cases. J Cardiovasc Electrophysiol. 2012 23(10):1092-1098. doi: 10.1111/j.1540-8167.2012.02 22882672 |