No paralogue variants have been mapped to residue 1779 for SCN5A.
| SCN5A | ILFFTTYIIISFLIVVNMYIAIILENFSVA>T<EESTEPLSEDDFDMFYEIWEKFDPEATQFI | 1809 |
| SCN1A | IFFFVSYIIISFLVVVNMYIAVILENFSVA>T<EESAEPLSEDDFEMFYEVWEKFDPDATQFM | 1823 |
| SCN2A | IFFFVSYIIISFLVVVNMYIAVILENFSVA>T<EESAEPLSEDDFEMFYEVWEKFDPDATQFI | 1813 |
| SCN3A | IFFFVSYIIISFLVVVNMYIAVILENFSVA>T<EESAEPLSEDDFEMFYEVWEKFDPDATQFI | 1808 |
| SCN4A | ICFFCSYIIISFLIVVNMYIAIILENFNVA>T<EESSEPLGEDDFEMFYETWEKFDPDATQFI | 1635 |
| SCN7A | IFYFVSYILISWLIIVNMYIVVVMEFLNIA>S<KKKNKTLSEDDFRKFFQVWKRFDPDRTQYI | 1533 |
| SCN8A | IFFFVSYIIISFLIVVNMYIAIILENFSVA>T<EESADPLSEDDFETFYEIWEKFDPDATQFI | 1803 |
| SCN9A | IFYFVSYIIISFLVVVNMYIAVILENFSVA>T<EESTEPLSEDDFEMFYEVWEKFDPDATQFI | 1786 |
| SCN10A | IIFFTTYIIISFLIMVNMYIAVILENFNVA>T<EESTEPLSEDDFDMFYETWEKFDPEATQFI | 1759 |
| SCN11A | TSYFVSYIIISFLIVVNMYIAVILENFNTA>T<EESEDPLGEDDFDIFYEVWEKFDPEATQFI | 1641 |
| CACNA1A | YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL>T<RDSSI-LGPHHLDEYVRVWAEYDPAACGRI | 1847 |
| CACNA1B | YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL>T<RDSSI-LGPHHLDEFIRVWAEYDPAACGRI | 1745 |
| CACNA1C | VFYFISFYMLCAFLIINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKRIWAEYDPEAKGRI | 1512 |
| CACNA1D | IVYFISFYMLCAFLIINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKRIWSEYDPEAKGRI | 1520 |
| CACNA1E | YVYFVSFIFFCSFLMLNLFVAVIMDNFEYL>T<RDSSI-LGPHHLDEFVRVWAEYDRAACGRI | 1759 |
| CACNA1F | IAYFISFFMLCAFLIINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKRIWSEYDPGAKGRI | 1477 |
| CACNA1G | PIYFVSFVLTAQFVLVNVVIAVLMKHLEES>N<KEAKE---EAELEAELELEMKT-LSPQPHS | 1884 |
| CACNA1H | PVYFVTFVLVAQFVLVNVVVAVLMKHLEES>N<KEARE---DAELDAEIELEMAQGPGSARRV | 1894 |
| CACNA1I | PLYFVSFVLTAQFVLINVVVAVLMKHLDDS>N<KEAQE---DAEMDAELELEMAHGLGPGPRL | 1764 |
| CACNA1S | YYYFISFYMLCAFLVINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKAIWAEYDPEAKGRI | 1417 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T1779M | c.5336C>T | Inherited Arrhythmia | LQTS,BrS | rs199473634 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | |||
| 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 | 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 | ||||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||