No paralogue variants have been mapped to residue 1718 for SCN5A.
| SCN5A | IDDMFNFQTFANSMLCLFQITTSAGWDGLL>S<PILNTGPPYCDPTLPN-S-NGSRGD---CG | 1743 |
| SCN1A | IDDMFNFETFGNSMICLFQITTSAGWDGLL>A<PILNSKPPDCDPNKVN-PGSSVKGD---CG | 1757 |
| SCN2A | IDDMFNFETFGNSMICLFQITTSAGWDGLL>A<PILNSGPPDCDPDKDH-PGSSVKGD---CG | 1747 |
| SCN3A | IDDMFNFETFGNSMICLFQITTSAGWDGLL>A<PILNSAPPDCDPDTIH-PGSSVKGD---CG | 1742 |
| SCN4A | IDDMFNFETFGNSIICLFEITTSAGWDGLL>N<PILNSGPPDCDPNLEN-PGTSVKGD---CG | 1569 |
| SCN7A | INDVSNFETFGNSMLCLFQVAIFAGWDGML>D<AIFNSKWSDCDPDKIN-PGTQVRGD---CG | 1467 |
| SCN8A | IDDMFNFETFGNSMICLFQITTSAGWDGLL>L<PILN-RPPDCSLDKEH-PGSGFKGD---CG | 1737 |
| SCN9A | INDMFNFETFGNSMICLFQITTSAGWDGLL>A<PILNSKPPDCDPKKVH-PGSSVEGD---CG | 1720 |
| SCN10A | IDDMFNFQTFANSMLCLFQITTSAGWDGLL>S<PILNTGPPYCDPNLPN-S-NGTRGD---CG | 1693 |
| SCN11A | IDDIFNFKTFASSMLCLFQISTSAGWDSLL>S<PMLRSKES-CN---------SSSEN---CH | 1575 |
| CACNA1A | ITEHNNFRTFFQALMLLFRSATGEAWHNIM>L<SCLSG--KPCDKNSGIL-----T-R--ECG | 1783 |
| CACNA1B | INRHNNFRTFLQALMLLFRSATGEAWHEIM>L<SCLSN--QACDE---Q------A-NATECG | 1681 |
| CACNA1C | INRNNNFQTFPQAVLLLFRCATGEAWQDIM>L<ACMPG--KKCAPESEP-SNSTEGETP--CG | 1448 |
| CACNA1D | INRNNNFQTFPQAVLLLFRCATGEAWQEIM>L<ACLPG--KLCDPESDY--NPGE-EYT--CG | 1456 |
| CACNA1E | INRHNNFRSFFGSLMLLFRSATGEAWQEIM>L<SCLGE--KGCEPDTTAPSGQNEN-E--RCG | 1695 |
| CACNA1F | INRNNNFQTFPQAVLLLFRCATGEAWQEIM>L<ASLPG--NRCDPESDF--GPGE-EFT--CG | 1413 |
| CACNA1G | LGRHATFRNFGMAFLTLFRVSTGDNWNGIM>K<DTLRD----CDQEST-----C-------YN | 1823 |
| CACNA1H | LSRHATFSNFGMAFLTLFRVSTGDNWNGIM>K<DTLRE----CSREDKH----C---LS--YL | 1832 |
| CACNA1I | MSRHATFENFGMAFLTLFQVSTGDNWNGIM>K<DTLRD----CTHDERS----C---LS--SL | 1702 |
| CACNA1S | INRNNNFQTFPQAVLLLFRCATGEAWQEIL>L<ACSYG--KLCDPESDY--APGE-EYT--CG | 1353 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1718R | c.5154C>A | Putative Benign | SIFT: Polyphen: |