No paralogue variants have been mapped to residue 1730 for SCN5A.
| SCN5A | SMLCLFQITTSAGWDGLLSPILNTGPPYCD>P<TLPN-S-NGSRGD---CGSPAVGILFFTTY | 1755 |
| SCN1A | SMICLFQITTSAGWDGLLAPILNSKPPDCD>P<NKVN-PGSSVKGD---CGNPSVGIFFFVSY | 1769 |
| SCN2A | SMICLFQITTSAGWDGLLAPILNSGPPDCD>P<DKDH-PGSSVKGD---CGNPSVGIFFFVSY | 1759 |
| SCN3A | SMICLFQITTSAGWDGLLAPILNSAPPDCD>P<DTIH-PGSSVKGD---CGNPSVGIFFFVSY | 1754 |
| SCN4A | SIICLFEITTSAGWDGLLNPILNSGPPDCD>P<NLEN-PGTSVKGD---CGNPSIGICFFCSY | 1581 |
| SCN7A | SMLCLFQVAIFAGWDGMLDAIFNSKWSDCD>P<DKIN-PGTQVRGD---CGNPSVGIFYFVSY | 1479 |
| SCN8A | SMICLFQITTSAGWDGLLLPILN-RPPDCS>L<DKEH-PGSGFKGD---CGNPSVGIFFFVSY | 1749 |
| SCN9A | SMICLFQITTSAGWDGLLAPILNSKPPDCD>P<KKVH-PGSSVEGD---CGNPSVGIFYFVSY | 1732 |
| SCN10A | SMLCLFQITTSAGWDGLLSPILNTGPPYCD>P<NLPN-S-NGTRGD---CGSPAVGIIFFTTY | 1705 |
| SCN11A | SMLCLFQISTSAGWDSLLSPMLRSKES-CN>-<--------SSSEN---CHLPGIATSYFVSY | 1587 |
| CACNA1A | ALMLLFRSATGEAWHNIMLSCLSG--KPCD>K<NSGIL-----T-R--ECGN-EFAYFYFVSF | 1794 |
| CACNA1B | ALMLLFRSATGEAWHEIMLSCLSN--QACD>E<---Q------A-NATECGS-DFAYFYFVSF | 1692 |
| CACNA1C | AVLLLFRCATGEAWQDIMLACMPG--KKCA>P<ESEP-SNSTEGETP--CGS-SFAVFYFISF | 1459 |
| CACNA1D | AVLLLFRCATGEAWQEIMLACLPG--KLCD>P<ESDY--NPGE-EYT--CGS-NFAIVYFISF | 1467 |
| CACNA1E | SLMLLFRSATGEAWQEIMLSCLGE--KGCE>P<DTTAPSGQNEN-E--RCGT-DLAYVYFVSF | 1706 |
| CACNA1F | AVLLLFRCATGEAWQEIMLASLPG--NRCD>P<ESDF--GPGE-EFT--CGS-NFAIAYFISF | 1424 |
| CACNA1G | AFLTLFRVSTGDNWNGIMKDTLRD----CD>Q<EST-----C-------YNT-VISPIYFVSF | 1834 |
| CACNA1H | AFLTLFRVSTGDNWNGIMKDTLRE----CS>R<EDKH----C---LS--YLP-ALSPVYFVTF | 1843 |
| CACNA1I | AFLTLFQVSTGDNWNGIMKDTLRD----CT>H<DERS----C---LS--SLQ-FVSPLYFVSF | 1713 |
| CACNA1S | AVLLLFRCATGEAWQEILLACSYG--KLCD>P<ESDY--APGE-EYT--CGT-NFAYYYFISF | 1364 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1730L | c.5189C>T | Putative Benign | SIFT: Polyphen: | ||
| p.P1730A | c.5188C>G | Putative Benign | SIFT: Polyphen: |