No paralogue variants have been mapped to residue 1723 for SCN5A.
| SCN5A | NFQTFANSMLCLFQITTSAGWDGLLSPILN>T<GPPYCDPTLPN-S-NGSRGD---CGSPAVG | 1748 |
| SCN1A | NFETFGNSMICLFQITTSAGWDGLLAPILN>S<KPPDCDPNKVN-PGSSVKGD---CGNPSVG | 1762 |
| SCN2A | NFETFGNSMICLFQITTSAGWDGLLAPILN>S<GPPDCDPDKDH-PGSSVKGD---CGNPSVG | 1752 |
| SCN3A | NFETFGNSMICLFQITTSAGWDGLLAPILN>S<APPDCDPDTIH-PGSSVKGD---CGNPSVG | 1747 |
| SCN4A | NFETFGNSIICLFEITTSAGWDGLLNPILN>S<GPPDCDPNLEN-PGTSVKGD---CGNPSIG | 1574 |
| SCN7A | NFETFGNSMLCLFQVAIFAGWDGMLDAIFN>S<KWSDCDPDKIN-PGTQVRGD---CGNPSVG | 1472 |
| SCN8A | NFETFGNSMICLFQITTSAGWDGLLLPILN>-<RPPDCSLDKEH-PGSGFKGD---CGNPSVG | 1742 |
| SCN9A | NFETFGNSMICLFQITTSAGWDGLLAPILN>S<KPPDCDPKKVH-PGSSVEGD---CGNPSVG | 1725 |
| SCN10A | NFQTFANSMLCLFQITTSAGWDGLLSPILN>T<GPPYCDPNLPN-S-NGTRGD---CGSPAVG | 1698 |
| SCN11A | NFKTFASSMLCLFQISTSAGWDSLLSPMLR>S<KES-CN---------SSSEN---CHLPGIA | 1580 |
| CACNA1A | NFRTFFQALMLLFRSATGEAWHNIMLSCLS>G<--KPCDKNSGIL-----T-R--ECGN-EFA | 1787 |
| CACNA1B | NFRTFLQALMLLFRSATGEAWHEIMLSCLS>N<--QACDE---Q------A-NATECGS-DFA | 1685 |
| CACNA1C | NFQTFPQAVLLLFRCATGEAWQDIMLACMP>G<--KKCAPESEP-SNSTEGETP--CGS-SFA | 1452 |
| CACNA1D | NFQTFPQAVLLLFRCATGEAWQEIMLACLP>G<--KLCDPESDY--NPGE-EYT--CGS-NFA | 1460 |
| CACNA1E | NFRSFFGSLMLLFRSATGEAWQEIMLSCLG>E<--KGCEPDTTAPSGQNEN-E--RCGT-DLA | 1699 |
| CACNA1F | NFQTFPQAVLLLFRCATGEAWQEIMLASLP>G<--NRCDPESDF--GPGE-EFT--CGS-NFA | 1417 |
| CACNA1G | TFRNFGMAFLTLFRVSTGDNWNGIMKDTLR>D<----CDQEST-----C-------YNT-VIS | 1827 |
| CACNA1H | TFSNFGMAFLTLFRVSTGDNWNGIMKDTLR>E<----CSREDKH----C---LS--YLP-ALS | 1836 |
| CACNA1I | TFENFGMAFLTLFQVSTGDNWNGIMKDTLR>D<----CTHDERS----C---LS--SLQ-FVS | 1706 |
| CACNA1S | NFQTFPQAVLLLFRCATGEAWQEILLACSY>G<--KLCDPESDY--APGE-EYT--CGT-NFA | 1357 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T1723N | c.5168C>A | Inherited Arrhythmia | LQTS | rs199473300 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.T1723A | c.5167A>G | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||