No paralogue variants have been mapped to residue 1739 for SCN5A.
| SCN5A | AGWDGLLSPILNTGPPYCDPTLPN-S-NGS>R<GD---CGSPAVGILFFTTYIIISFLIVVNM | 1766 |
| SCN1A | AGWDGLLAPILNSKPPDCDPNKVN-PGSSV>K<GD---CGNPSVGIFFFVSYIIISFLVVVNM | 1780 |
| SCN2A | AGWDGLLAPILNSGPPDCDPDKDH-PGSSV>K<GD---CGNPSVGIFFFVSYIIISFLVVVNM | 1770 |
| SCN3A | AGWDGLLAPILNSAPPDCDPDTIH-PGSSV>K<GD---CGNPSVGIFFFVSYIIISFLVVVNM | 1765 |
| SCN4A | AGWDGLLNPILNSGPPDCDPNLEN-PGTSV>K<GD---CGNPSIGICFFCSYIIISFLIVVNM | 1592 |
| SCN7A | AGWDGMLDAIFNSKWSDCDPDKIN-PGTQV>R<GD---CGNPSVGIFYFVSYILISWLIIVNM | 1490 |
| SCN8A | AGWDGLLLPILN-RPPDCSLDKEH-PGSGF>K<GD---CGNPSVGIFFFVSYIIISFLIVVNM | 1760 |
| SCN9A | AGWDGLLAPILNSKPPDCDPKKVH-PGSSV>E<GD---CGNPSVGIFYFVSYIIISFLVVVNM | 1743 |
| SCN10A | AGWDGLLSPILNTGPPYCDPNLPN-S-NGT>R<GD---CGSPAVGIIFFTTYIIISFLIMVNM | 1716 |
| SCN11A | AGWDSLLSPMLRSKES-CN---------SS>S<EN---CHLPGIATSYFVSYIIISFLIVVNM | 1598 |
| CACNA1A | EAWHNIMLSCLSG--KPCDKNSGIL----->T<-R--ECGN-EFAYFYFVSFIFLCSFLMLNL | 1805 |
| CACNA1B | EAWHEIMLSCLSN--QACDE---Q------>A<-NATECGS-DFAYFYFVSFIFLCSFLMLNL | 1703 |
| CACNA1C | EAWQDIMLACMPG--KKCAPESEP-SNSTE>G<ETP--CGS-SFAVFYFISFYMLCAFLIINL | 1470 |
| CACNA1D | EAWQEIMLACLPG--KLCDPESDY--NPGE>-<EYT--CGS-NFAIVYFISFYMLCAFLIINL | 1478 |
| CACNA1E | EAWQEIMLSCLGE--KGCEPDTTAPSGQNE>N<-E--RCGT-DLAYVYFVSFIFFCSFLMLNL | 1717 |
| CACNA1F | EAWQEIMLASLPG--NRCDPESDF--GPGE>-<EFT--CGS-NFAIAYFISFFMLCAFLIINL | 1435 |
| CACNA1G | DNWNGIMKDTLRD----CDQEST-----C->-<-----YNT-VISPIYFVSFVLTAQFVLVNV | 1845 |
| CACNA1H | DNWNGIMKDTLRE----CSREDKH----C->-<-LS--YLP-ALSPVYFVTFVLVAQFVLVNV | 1854 |
| CACNA1I | DNWNGIMKDTLRD----CTHDERS----C->-<-LS--SLQ-FVSPLYFVSFVLTAQFVLINV | 1724 |
| CACNA1S | EAWQEILLACSYG--KLCDPESDY--APGE>-<EYT--CGT-NFAYYYFISFYMLCAFLVINL | 1375 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1739W | c.5215C>T | Inherited Arrhythmia | LQTS | rs199473303 | SIFT: deleterious 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 | ||
| Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
| p.R1739Q | c.5216G>A | Putative Benign | rs200217157 | SIFT: tolerated Polyphen: possibly damaging | |