No paralogue variants have been mapped to residue 1140 for SCN5A.
| SCN5A | CGETPE------------------DSCSEG>S<TADMTNTAELLEQIPDLGQDVKDP------ | 1164 |
| SCN1A | -KLNES------------------SSSSEG>S<TVDIGAPVE--EQPVVEPEETLEP------ | 1177 |
| SCN2A | -KLN-A------------------TSSSEG>S<TVDIGAPAEG-EQPEVEPEESLEP------ | 1167 |
| SCN3A | -KLN-A------------------TSSSEG>S<TVDVVLPREG-EQAETEPEEDLKP------ | 1165 |
| SCN4A | -PLY-D------------------GNSSVC>S<TADYKPPEEDPEEQAEENPEGEQP------ | 990 |
| SCN7A | -KIK-Q------------------SSSSEC>S<TVDIAISEEE--EM----FYGGER------ | 893 |
| SCN8A | -KLD-D------------------TSSSEG>S<TIDIKPEVE--EVPVEQPEEYLDP------ | 1157 |
| SCN9A | -RLN-R------------------SSSSEC>S<TVDNPLPGEG-EEAEAEPMNSDEP------ | 1140 |
| SCN10A | -GVD-D------------------TSSSEG>S<TVDCLDPEEILRKIPELADDLEEP------ | 1111 |
| SCN11A | KKSD-V-----------------TSILSEC>S<TIDLQDGFG--WLP--EMVPKKQP------ | 1015 |
| CACNA1A | -KTP-ENSLIVTNPSGTQTNSAKTARKPDH>T<TVDIPPACPPPL---------NHTVVQVNK | 1188 |
| CACNA1B | -LQK-VEEQPEDADNQRNVTRMGSQPPDPN>T<IVHIPVMLTGPL---------GEATVVPSG | 1098 |
| CACNA1C | ------------------------------>-<---------RPL---------SEL------ | 865 |
| CACNA1D | ------------------------------>-<---------RRI---------SEL------ | 871 |
| CACNA1E | -ATT-ESTSVTVAIPDVDP-------LVDS>T<VVHISNKTDG------------EASPLKEA | 1102 |
| 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.S1140T | c.3419G>C | Inherited Arrhythmia | BrS | rs199473199 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||
| Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 | |||