No paralogue variants have been mapped to residue 1163 for SCN5A.
| SCN5A | -DSCSEGSTADMTNTAELLEQIPDLGQDVK>D<P------------------EDCFTEGCVRR | 1175 |
| SCN1A | -SSSSEGSTVDIGAPVE--EQPVVEPEETL>E<P------------------EACFTEGCVQR | 1188 |
| SCN2A | -TSSSEGSTVDIGAPAEG-EQPEVEPEESL>E<P------------------EACFTEDCVRK | 1178 |
| SCN3A | -TSSSEGSTVDVVLPREG-EQAETEPEEDL>K<P------------------EACFTEGCIKK | 1176 |
| SCN4A | -GNSSVCSTADYKPPEEDPEEQAEENPEGE>Q<P------------------EECFTEACVQR | 1001 |
| SCN7A | -SSSSECSTVDIAISEEE--EM----FYGG>E<R------------------SKHLKNGCRRG | 904 |
| SCN8A | -TSSSEGSTIDIKPEVE--EVPVEQPEEYL>D<P------------------DACFTEGCVQR | 1168 |
| SCN9A | -SSSSECSTVDNPLPGEG-EEAEAEPMNSD>E<P------------------EACFTDGCVWR | 1151 |
| SCN10A | -TSSSEGSTVDCLDPEEILRKIPELADDLE>E<P------------------DDCFTEGCIRH | 1122 |
| SCN11A | TSILSECSTIDLQDGFG--WLP--EMVPKK>Q<P------------------ERCLPKGFGCC | 1026 |
| CACNA1A | TARKPDHTTVDIPPACPPPL---------N>H<TVVQVNKNANPDPLPKKEEEKKEEEEDDRG | 1211 |
| CACNA1B | SQPPDPNTIVHIPVMLTGPL---------G>E<ATVVPSGNVD---LESQAEGKKEVEADDVM | 1118 |
| CACNA1C | -----------------RPL---------S>E<L----------H-----------------L | 867 |
| CACNA1D | -----------------RRI---------S>E<L----------N-----------------M | 873 |
| CACNA1E | ---LVDSTVVHISNKTDG------------>E<ASPLKEAEI----REDEEEVEKKKQKKEKR | 1121 |
| CACNA1F | -----------------ELL---------Q>E<V----------V-----------------P | 838 |
| CACNA1G | -----------------RAW---------I>R<A----------R-----------------L | 1244 |
| CACNA1H | -----------------HKV---------L>E<P----------Y-----------------K | 1262 |
| CACNA1I | -----------------RKM---------I>D<V----------Y-----------------K | 1138 |
| CACNA1S | -----------------RPL---------A>E<L----------Q-----------------L | 766 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1163E | c.3489C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783 | ||