No paralogue variants have been mapped to residue 1164 for SCN5A.
| SCN5A | DSCSEGSTADMTNTAELLEQIPDLGQDVKD>P<------------------EDCFTEGCVRR- | 1175 |
| SCN1A | SSSSEGSTVDIGAPVE--EQPVVEPEETLE>P<------------------EACFTEGCVQR- | 1188 |
| SCN2A | TSSSEGSTVDIGAPAEG-EQPEVEPEESLE>P<------------------EACFTEDCVRK- | 1178 |
| SCN3A | TSSSEGSTVDVVLPREG-EQAETEPEEDLK>P<------------------EACFTEGCIKK- | 1176 |
| SCN4A | GNSSVCSTADYKPPEEDPEEQAEENPEGEQ>P<------------------EECFTEACVQR- | 1001 |
| SCN7A | SSSSECSTVDIAISEEE--EM----FYGGE>R<------------------SKHLKNGCRRG- | 904 |
| SCN8A | TSSSEGSTIDIKPEVE--EVPVEQPEEYLD>P<------------------DACFTEGCVQR- | 1168 |
| SCN9A | SSSSECSTVDNPLPGEG-EEAEAEPMNSDE>P<------------------EACFTDGCVWR- | 1151 |
| SCN10A | TSSSEGSTVDCLDPEEILRKIPELADDLEE>P<------------------DDCFTEGCIRH- | 1122 |
| SCN11A | SILSECSTIDLQDGFG--WLP--EMVPKKQ>P<------------------ERCLPKGFGCC- | 1026 |
| CACNA1A | ARKPDHTTVDIPPACPPPL---------NH>T<VVQVNKNANPDPLPKKEEEKKEEEEDDRGE | 1212 |
| CACNA1B | QPPDPNTIVHIPVMLTGPL---------GE>A<TVVPSGNVD---LESQAEGKKEVEADDVMR | 1119 |
| CACNA1C | ----------------RPL---------SE>L<----------H-----------------LK | 868 |
| CACNA1D | ----------------RRI---------SE>L<----------N-----------------MK | 874 |
| CACNA1E | --LVDSTVVHISNKTDG------------E>A<SPLKEAEI----REDEEEVEKKKQKKEKRE | 1122 |
| CACNA1F | ----------------ELL---------QE>V<----------V-----------------PK | 839 |
| CACNA1G | ----------------RAW---------IR>A<----------R-----------------LP | 1245 |
| CACNA1H | ----------------HKV---------LE>P<----------Y-----------------KP | 1263 |
| CACNA1I | ----------------RKM---------ID>V<----------Y-----------------KP | 1139 |
| CACNA1S | ----------------RPL---------AE>L<----------Q-----------------LK | 767 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Pro1164Leu | c.3491C>T | Unknown | SIFT: Polyphen: |