No paralogue variants have been mapped to residue 1722 for SCN5A.
| SCN5A | FNFQTFANSMLCLFQITTSAGWDGLLSPIL>N<TGPPYCDPTLPN-S-NGSRGD---CGSPAV | 1747 |
| SCN1A | FNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SKPPDCDPNKVN-PGSSVKGD---CGNPSV | 1761 |
| SCN2A | FNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SGPPDCDPDKDH-PGSSVKGD---CGNPSV | 1751 |
| SCN3A | FNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SAPPDCDPDTIH-PGSSVKGD---CGNPSV | 1746 |
| SCN4A | FNFETFGNSIICLFEITTSAGWDGLLNPIL>N<SGPPDCDPNLEN-PGTSVKGD---CGNPSI | 1573 |
| SCN7A | SNFETFGNSMLCLFQVAIFAGWDGMLDAIF>N<SKWSDCDPDKIN-PGTQVRGD---CGNPSV | 1471 |
| SCN8A | FNFETFGNSMICLFQITTSAGWDGLLLPIL>N<-RPPDCSLDKEH-PGSGFKGD---CGNPSV | 1741 |
| SCN9A | FNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SKPPDCDPKKVH-PGSSVEGD---CGNPSV | 1724 |
| SCN10A | FNFQTFANSMLCLFQITTSAGWDGLLSPIL>N<TGPPYCDPNLPN-S-NGTRGD---CGSPAV | 1697 |
| SCN11A | FNFKTFASSMLCLFQISTSAGWDSLLSPML>R<SKES-CN---------SSSEN---CHLPGI | 1579 |
| CACNA1A | NNFRTFFQALMLLFRSATGEAWHNIMLSCL>S<G--KPCDKNSGIL-----T-R--ECGN-EF | 1786 |
| CACNA1B | NNFRTFLQALMLLFRSATGEAWHEIMLSCL>S<N--QACDE---Q------A-NATECGS-DF | 1684 |
| CACNA1C | NNFQTFPQAVLLLFRCATGEAWQDIMLACM>P<G--KKCAPESEP-SNSTEGETP--CGS-SF | 1451 |
| CACNA1D | NNFQTFPQAVLLLFRCATGEAWQEIMLACL>P<G--KLCDPESDY--NPGE-EYT--CGS-NF | 1459 |
| CACNA1E | NNFRSFFGSLMLLFRSATGEAWQEIMLSCL>G<E--KGCEPDTTAPSGQNEN-E--RCGT-DL | 1698 |
| CACNA1F | NNFQTFPQAVLLLFRCATGEAWQEIMLASL>P<G--NRCDPESDF--GPGE-EFT--CGS-NF | 1416 |
| CACNA1G | ATFRNFGMAFLTLFRVSTGDNWNGIMKDTL>R<D----CDQEST-----C-------YNT-VI | 1826 |
| CACNA1H | ATFSNFGMAFLTLFRVSTGDNWNGIMKDTL>R<E----CSREDKH----C---LS--YLP-AL | 1835 |
| CACNA1I | ATFENFGMAFLTLFQVSTGDNWNGIMKDTL>R<D----CTHDERS----C---LS--SLQ-FV | 1705 |
| CACNA1S | NNFQTFPQAVLLLFRCATGEAWQEILLACS>Y<G--KLCDPESDY--APGE-EYT--CGT-NF | 1356 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N1722D | c.5164A>G | Inherited Arrhythmia | BrS | rs199473299 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet. 2009 2(6):552-7. 20031634 | ||
| 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 | |||