No paralogue variants have been mapped to residue 15 for SCN5A.
| SCN5A | -MAN-F-L-------------LPRGTSSFR>R<FTRESLAAIEKRMAEK-QARGSTTLQESRE | 44 |
| SCN1A | MEQT-V-L-------------VPPGPDSFN>F<FTRESLAAIERRIAEE-KAKNPKPD----K | 41 |
| SCN2A | MAQS-V-L-------------VPPGPDSFR>F<FTRESLAAIEQRIAEE-KAKRPKQE----R | 41 |
| SCN3A | MAQA-L-L-------------VPPGPESFR>L<FTRESLAAIEKRAAEE-KAKKPKKE----Q | 41 |
| SCN4A | PSLC-T-L-------------VPLGPECLR>P<FTRESLAAIEQRAVEE-EARLQRNK----Q | 44 |
| SCN7A | -----M-L-------------ASPEPKGLV>P<FTKESFELIKQHIAKT--------H----N | 30 |
| SCN8A | MAAR-L-L-------------APPGPDSFK>P<FTPESLANIERRIAES-KLKKPPKADGSHR | 45 |
| SCN9A | --MA-M-L-------------PPPGPQSFV>H<FTKQSLALIEQRIAER-KSKEPKEE----K | 39 |
| SCN10A | -MEF-P-I-------------GSLETNNFR>R<FTPESLVEIEKQIAAKQGT-KKARE-KHRE | 43 |
| SCN11A | DRCY-P-V-------------IFPDERNFR>P<FTSDSLAAIEKRIAIQ-KEKKKSK-----D | 42 |
| CACNA1A | F-----GD----EM-PARYGG--------->-<--GGSGAAAGV-------------VVGSG- | 28 |
| CACNA1B | F-----GD----EL-GGRYGG--------->-<--PGGGERA-----------------RGG- | 24 |
| CACNA1C | ENTR--MYIPEENHQGSNYGS--------->-<--PR-PAHANMN--------A-NAAAGLA- | 39 |
| CACNA1D | M-----MMMKKMQHQRQQQAD--------H>-<-ANE-ANYARGT--------R-LPLSGEG- | 38 |
| CACNA1E | F-----GE----AV-VARPGS--------->-<-----GDGD----------------SD-Q- | 21 |
| CACNA1F | S-----E----GG----KDTT--------->-<--PE-PSPAN--------------GAGPG- | 23 |
| CACNA1G | E-ED--GA-------------GAEESGQP->R<-S---------F--------M--RLND--- | 24 |
| CACNA1H | G-ARAADE--V-RV-P--LGAPPPGPAALV>G<ASPESPGAPGRE--------A--ERGS--- | 44 |
| CACNA1I | ------SA-------------SPPSSSAAA>P<AA------------------E--PGVTTE- | 24 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R15T | c.44G>C | Putative Benign | rs373410109 | SIFT: tolerated Polyphen: probably damaging | |
| p.R15G | c.43A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 | |||