No paralogue variants have been mapped to residue 689 for SCN5A.
| SCN5A | -HK--CPPC-------------------WN>R<-LAQRYLIWECCPLWMSIKQGVKLVVMDPF | 718 |
| SCN1A | -QK--CPPC-------------------WY>K<-FSNIFLIWDCSPYWLKVKHVVNLVVMDPF | 769 |
| SCN2A | -QK--CPPC-------------------WY>K<-FANMCLIWDCCKPWLKVKHLVNLVVMDPF | 760 |
| SCN3A | -QK--CPPC-------------------WY>R<-FANVFLIWDCCDAWLKVKHLVNLIVMDPF | 761 |
| SCN4A | -QK--CPPW-------------------WY>K<-CAHKVLIWNCCAPWLKFKNIIHLIVMDPF | 579 |
| SCN7A | -KI--CPLY-------------------WY>K<-FAKTFLIWNCSPCWLKLKEFVHRIIMAPF | 506 |
| SCN8A | -RK--CPPC-------------------WY>K<-FANTFLIWECHPYWIKLKEIVNLIVMDPF | 754 |
| SCN9A | -QK--CPPW-------------------WY>R<-FAHKFLIWNCSPYWIKFKKCIYFIVMDPF | 734 |
| SCN10A | -QK--CPPC-------------------LT>S<-LSQKYLIWDCCPMWVKLKTILFGLVTDPF | 666 |
| SCN11A | -EP--CLPC-------------------GE>N<-LASKYLVWNCCPQWLCVKKVLRTVMTDPF | 578 |
| CACNA1A | -SP--FARA-------------------SI>K<-SAKLENSTFFHKKERRMRFYIRRMVKTQA | 488 |
| CACNA1B | -SP--FARA-------------------SL>K<-SGKTESSSYFRRKEKMFRFFIRRMVKAQS | 484 |
| CACNA1C | ------ARL-------------------AH>R<-ISKSKFSRYWRRWNRFCRRKCRAAVKSNV | 525 |
| CACNA1D | -GPSGCRRW-------------------GQ>A<-ISKSKLSRRWRRWNRFNRRRCRAAVKSVT | 544 |
| CACNA1E | -TP--LARA-------------------SI>K<-SAKVDGVSYFRHKERLLRISIRHMVKSQV | 477 |
| CACNA1F | -ALASCTRC-------------------LN>K<-IMKTRVCRRLRRANRVLRARCRRAVKSNA | 530 |
| CACNA1G | RDPH-SRRQ---R----------------->-<SLGPDAEPSSVLAFWRLICDTFRKIVDSKY | 744 |
| CACNA1H | WDP--TRPPRATDTPGPG---PGSPQRRAQ>Q<RAAPGE-PGWMGRLWVTFSGKLRRIVDSKY | 794 |
| CACNA1I | DGD--GARS---SEDGASSELG--KEEEEE>E<-QADGA-VWLCGDVWRETRAKLRGIVDSKY | 641 |
| CACNA1S | ----------------------------LN>K<-I--IQFIRHWRQWNRIFRWKCHDIVKSKV | 433 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R689C | c.2065C>T | Inherited Arrhythmia | LQTS | rs199473580 | SIFT: deleterious Polyphen: possibly 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.R689H | c.2066G>A | Inherited Arrhythmia | LQTS,BrS | rs199473145 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | ||
| Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Inherited Arrhythmia | BrS | Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465 | |||
| Putative Benign | 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 | ||||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | BrS | Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation. Eur J Hum Genet. 2012 20(11):1189-92. doi: 10.1038/ejhg.2012.63. 22490985 | |||
| Inherited Arrhythmia | BrS | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | |||
| Inherited Arrhythmia | LQTS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||