No paralogue variants have been mapped to residue 1153 for SCN5A.
SCN5A | -----------DSCSEGSTADMTNTAELLE>Q<IPDLGQDVKDP------------------E | 1165 |
SCN1A | -----------SSSSEGSTVDIGAPVE--E>Q<PVVEPEETLEP------------------E | 1178 |
SCN2A | -----------TSSSEGSTVDIGAPAEG-E>Q<PEVEPEESLEP------------------E | 1168 |
SCN3A | -----------TSSSEGSTVDVVLPREG-E>Q<AETEPEEDLKP------------------E | 1166 |
SCN4A | -----------GNSSVCSTADYKPPEEDPE>E<QAEENPEGEQP------------------E | 991 |
SCN7A | -----------SSSSECSTVDIAISEEE-->E<M----FYGGER------------------S | 894 |
SCN8A | -----------TSSSEGSTIDIKPEVE--E>V<PVEQPEEYLDP------------------D | 1158 |
SCN9A | -----------SSSSECSTVDNPLPGEG-E>E<AEAEPMNSDEP------------------E | 1141 |
SCN10A | -----------TSSSEGSTVDCLDPEEILR>K<IPELADDLEEP------------------D | 1112 |
SCN11A | ----------TSILSECSTIDLQDGFG--W>L<P--EMVPKKQP------------------E | 1016 |
CACNA1A | PSGTQTNSAKTARKPDHTTVDIPPACPPPL>-<--------NHTVVQVNKNANPDPLPKKEEE | 1201 |
CACNA1B | DNQRNVTRMGSQPPDPNTIVHIPVMLTGPL>-<--------GEATVVPSGNVD---LESQAEG | 1108 |
CACNA1C | ---------------------------RPL>-<--------SEL----------H-------- | 866 |
CACNA1D | ---------------------------RRI>-<--------SEL----------N-------- | 872 |
CACNA1E | IPDVDP-------LVDSTVVHISNKTDG-->-<---------EASPLKEAEI----REDEEEV | 1111 |
CACNA1F | ---------------------------ELL>-<--------QEV----------V-------- | 837 |
CACNA1G | ---------------------------RAW>-<--------IRA----------R-------- | 1243 |
CACNA1H | ---------------------------HKV>-<--------LEP----------Y-------- | 1261 |
CACNA1I | ---------------------------RKM>-<--------IDV----------Y-------- | 1137 |
CACNA1S | ---------------------------RPL>-<--------AEL----------Q-------- | 765 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1153H | c.3459G>C | Putative Benign | SIFT: Polyphen: |