No paralogue variants have been mapped to residue 1134 for SCN5A.
SCN5A | PG----CGETPE------------------>D<SCSEGSTADMTNTAELLEQIPDLGQDVKDP | 1164 |
SCN1A | -------KLNES------------------>S<SSSEGSTVDIGAPVE--EQPVVEPEETLEP | 1177 |
SCN2A | -------KLN-A------------------>T<SSSEGSTVDIGAPAEG-EQPEVEPEESLEP | 1167 |
SCN3A | -------KLN-A------------------>T<SSSEGSTVDVVLPREG-EQAETEPEEDLKP | 1165 |
SCN4A | -------PLY-D------------------>G<NSSVCSTADYKPPEEDPEEQAEENPEGEQP | 990 |
SCN7A | -------KIK-Q------------------>S<SSSECSTVDIAISEEE--EM----FYGGER | 893 |
SCN8A | -------KLD-D------------------>T<SSSEGSTIDIKPEVE--EVPVEQPEEYLDP | 1157 |
SCN9A | -------RLN-R------------------>S<SSSECSTVDNPLPGEG-EEAEAEPMNSDEP | 1140 |
SCN10A | -------GVD-D------------------>T<SSSEGSTVDCLDPEEILRKIPELADDLEEP | 1111 |
SCN11A | TIQDPRKKSD-V-----------------T>S<ILSECSTIDLQDGFG--WLP--EMVPKKQP | 1015 |
CACNA1A | NPGPP--KTP-ENSLIVTNPSGTQTNSAKT>A<RKPDHTTVDIPPACPPPL---------NHT | 1182 |
CACNA1B | LPSTC--LQK-VEEQPEDADNQRNVTRMGS>Q<PPDPNTIVHIPVMLTGPL---------GEA | 1092 |
CACNA1C | ------------------------------>-<---------------RPL---------SEL | 865 |
CACNA1D | ------------------------------>-<---------------RRI---------SEL | 871 |
CACNA1E | --TDK--ATT-ESTSVTVAIPDVDP----->-<-LVDSTVVHISNKTDG------------EA | 1096 |
CACNA1F | ------------------------------>-<---------------ELL---------QEV | 836 |
CACNA1G | ------------------------------>-<---------------RAW---------IRA | 1242 |
CACNA1H | ------------------------------>-<---------------HKV---------LEP | 1260 |
CACNA1I | ------------------------------>-<---------------RKM---------IDV | 1136 |
CACNA1S | ------------------------------>-<---------------RPL---------AEL | 764 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1134N | c.3400G>A | Putative Benign | SIFT: Polyphen: |