No paralogue variants have been mapped to residue 618 for SCN5A.
| SCN5A | --DCNGVVSLLG-AGD----PEAT-SPGSH>L<LRP-------------VMLEHPP--DTTTP | 633 |
| SCN1A | TVDCNGVVSLVG-G-P----SVPT-SPVGQ>L<LPE-------------VIIDKPATDDNGTT | 684 |
| SCN2A | AVDCNGVVSLVG-G-P----STLT-SA-GQ>L<LPE------------------------GTT | 675 |
| SCN3A | TVDCNGVVSLVG-G-P----SALT-SPTGQ>L<PPE------------------------GTT | 676 |
| SCN4A | --DCNGSLDTSQ-G---------------->-<------------------------------ | 515 |
| SCN7A | ------------------------------>-<-----------------------------T | 433 |
| SCN8A | TVDCNGVVSLIG-G-P----GSHI---GGR>L<LPE------------------------A-T | 668 |
| SCN9A | AVDCNGVVSLVD-G-R----SALM-LPNGQ>L<LPE-------------G-----------TT | 650 |
| SCN10A | ---------SRH-G-E----DEHQPPPT-S>E<LAP----------------------GAVDV | 584 |
| SCN11A | --DCQKKPQLLE-Q---------------->-<-T---------------------------- | 498 |
| CACNA1A | ------------------------------>-<----------------------------D- | 432 |
| CACNA1B | ------------------------------>-<----------------------------D- | 428 |
| CACNA1C | ------------------------------>-<----------------------------E- | 472 |
| CACNA1D | ------------------------------>-<----------------------------E- | 472 |
| CACNA1E | ------------------------------>-<----------------------------E- | 421 |
| CACNA1F | ------------------------------>-<----------------------------T- | 458 |
| CACNA1G | VAASSGPPTLTSL-NI----PPGPY-SSMH>K<LLETQSTGACQS-----SC--KISSPCLK- | 656 |
| CACNA1H | KGKWAGGPPGTGGHGPLSLNSPDPY-EKIP>H<VVGEHGLGQAPGHLSGLSV--PCPLPSPP- | 689 |
| CACNA1I | --TLAS------------------------>-<------------------------------ | 548 |
| CACNA1S | ------------------------------>-<----------------------------E- | 396 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L618F | c.1852C>T | Conflict | rs45488304 | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 105(16):1943-8. 11997281 | |||
| Inherited Arrhythmia | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| 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 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| 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 | A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating. Hum Mutat. 2003 21(5):552. 12673799 | |||
| Other Cardiac Phenotype | 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 | ||||
| Other Cardiac Phenotype | 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 | ||||
| Other Cardiac Phenotype | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | ||||