No paralogue variants have been mapped to residue 1156 for SCN5A.
SCN5A | --------DSCSEGSTADMTNTAELLEQIP>D<LGQDVKDP------------------EDCF | 1168 |
SCN1A | --------SSSSEGSTVDIGAPVE--EQPV>V<EPEETLEP------------------EACF | 1181 |
SCN2A | --------TSSSEGSTVDIGAPAEG-EQPE>V<EPEESLEP------------------EACF | 1171 |
SCN3A | --------TSSSEGSTVDVVLPREG-EQAE>T<EPEEDLKP------------------EACF | 1169 |
SCN4A | --------GNSSVCSTADYKPPEEDPEEQA>E<ENPEGEQP------------------EECF | 994 |
SCN7A | --------SSSSECSTVDIAISEEE--EM->-<--FYGGER------------------SKHL | 897 |
SCN8A | --------TSSSEGSTIDIKPEVE--EVPV>E<QPEEYLDP------------------DACF | 1161 |
SCN9A | --------SSSSECSTVDNPLPGEG-EEAE>A<EPMNSDEP------------------EACF | 1144 |
SCN10A | --------TSSSEGSTVDCLDPEEILRKIP>E<LADDLEEP------------------DDCF | 1115 |
SCN11A | -------TSILSECSTIDLQDGFG--WLP->-<EMVPKKQP------------------ERCL | 1019 |
CACNA1A | TQTNSAKTARKPDHTTVDIPPACPPPL--->-<-----NHTVVQVNKNANPDPLPKKEEEKKE | 1204 |
CACNA1B | RNVTRMGSQPPDPNTIVHIPVMLTGPL--->-<-----GEATVVPSGNVD---LESQAEGKKE | 1111 |
CACNA1C | ------------------------RPL--->-<-----SEL----------H----------- | 866 |
CACNA1D | ------------------------RRI--->-<-----SEL----------N----------- | 872 |
CACNA1E | VDP-------LVDSTVVHISNKTDG----->-<------EASPLKEAEI----REDEEEVEKK | 1114 |
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.D1156G | c.3467A>G | Putative Benign | SIFT: Polyphen: |