No paralogue variants have been mapped to residue 1193 for SCN5A.
| SCN5A | CFTEGCVRR-CPCCAVDTTQAP---GKVWW>R<LRKTCYHIVEHSWFETFIIFMILLSSGALA | 1223 |
| SCN1A | CFTEGCVQR-FKCCQINVEEGR---GKQWW>N<LRRTCFRIVEHNWFETFIVFMILLSSGALA | 1236 |
| SCN2A | CFTEDCVRK-FKCCQISIEEGK---GKLWW>N<LRKTCYKIVEHNWFETFIVFMILLSSGALA | 1226 |
| SCN3A | CFTEGCIKK-FPFCQVSTEEGK---GKIWW>N<LRKTCYSIVEHNWFETFIVFMILLSSGALA | 1224 |
| SCN4A | CFTEACVQR-WPCLYVDISQGR---GKKWW>T<LRRACFKIVEHNWFETFIVFMILLSSGALA | 1049 |
| SCN7A | HLKNGCRRG-SSLGQISGASKK---GKIWQ>N<IRKTCCKIVENNWFKCFIGLVTLLSTGTLA | 952 |
| SCN8A | CFTEGCVQR-FKCCQVNIEEGL---GKSWW>I<LRKTCFLIVEHNWFETFIIFMILLSSGALA | 1216 |
| SCN9A | CFTDGCVWR-FSCCQVNIESGK---GKIWW>N<IRKTCYKIVEHSWFESFIVLMILLSSGALA | 1199 |
| SCN10A | CFTEGCIRH-CPCCKLDTTKSP---WDVGW>Q<VRKTCYRIVEHSWFESFIIFMILLSSGSLA | 1170 |
| SCN11A | CLPKGFGCC-FPCCSVDKRKPP---WVIWW>N<LRKTCYQIVKHSWFESFIIFVILLSSGALI | 1074 |
| CACNA1A | KEEEEDDRGEDGPK-PMPPYSSMFILSTTN>P<LRRLCHYILNLRYFEMCILMVIAMSSIALA | 1262 |
| CACNA1B | KEVEADDVMRSGPR-PIVPYSSMFCLSPTN>L<LRRFCHYIVTMRYFEVVILVVIALSSIALA | 1169 |
| CACNA1C | --------LKEKAV-PMPEASAFFIFSSNN>R<FRLQCHRIVNDTIFTNLILFFILLSSISLA | 918 |
| CACNA1D | --------MKEKIA-PIPEGSAFFILSKTN>P<IRVGCHKLINHHIFTNLILVFIMLSSAALA | 924 |
| CACNA1E | KKKQKKEKRETG-K-AMVPHSSMFIFSTTN>P<IRRACHYIVNLRYFEMCILLVIAASSIALA | 1171 |
| CACNA1F | --------PKEKVV-PIPEGSAFFCLSQTN>P<LRKGCHTLIHHHVFTNLILVFIILSSVSLA | 889 |
| CACNA1G | --------LP-ACCLERDSWSAY-IFPPQS>R<FRLLCHRIITHKMFDHVVLVIIFLNCITIA | 1294 |
| CACNA1H | --------KP-QWCRSREAWALY-LFSPQN>R<FRVSCQKVITHKMFDHVVLVFIFLNCVTIA | 1312 |
| CACNA1I | --------KP-DWCEVREDWSVY-LFSPEN>R<FRVLCQTIIAHKLFDYVVLAFIFLNCITIA | 1188 |
| CACNA1S | --------LKEKAV-PIPEASSFFIFSPTN>K<IRVLCHRIVNATWFTNFILLFILLSSAALA | 817 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1193Q | c.3578G>A | Conflict | LQTS,BrS | rs41261344 | SIFT: tolerated Polyphen: benign |
| Reports | Other Cardiac Phenotype | Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002 11(3):337-45. 11823453 | |||
| Putative Benign | Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. Life Sci. 2003 72(21):2391-9. 12639704 | ||||
| Other Cardiac Phenotype | The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet. 2004 41(5):e66. 15121794 | ||||
| Other Cardiac Phenotype | R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet. 2005 author reply e8. 15689442 | ||||
| Other Cardiac Phenotype | 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 | ||||
| Putative Benign | Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735 | ||||
| Other Cardiac Phenotype | A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. J Med Genet. 2006 43(10):817-21. 16707561 | ||||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Inherited Arrhythmia | BrS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| Inherited Arrhythmia | LQTS | SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. J Med Genet. 2008 45(2):127-8. 18245395 | |||
| Other Cardiac Phenotype | Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern. J Electrocardiol. 2009 42(3):250-3. 18976777 | ||||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Inherited Arrhythmia | LQTS | [The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]. Vestn Ross Akad Med Nauk. 2007 (5):3-11. 17605181 | |||
| Other Cardiac Phenotype | A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092 | ||||
| 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 | ||||
| Other Cardiac Phenotype | Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005 2(7):741-7. 15992732 | ||||
| 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 | An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 | ||||
| Other Cardiac Phenotype | Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia. J Korean Med Sci. 2013 28(7):1021-6. doi: 10.3346/jkms.2013.28.7.1021. 23853484 | ||||
| Other Cardiac Phenotype | An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene. Leg Med (Tokyo). 2012 14(6):317-9. doi: 10.1016/j.legalmed.2012.04.009. 22682427 | ||||
| Other Cardiac Phenotype | 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 | Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months. Pacing Clin Electrophysiol. 2012 35(8):e243-6. doi: 10.1111/j.1540-8159.2012.03409. 22519808 | |||
| Other Cardiac Phenotype | The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014 16(10):741-50. doi: 10.1038/gim.2014.29. 24784157 | ||||
| Other Cardiac Phenotype | SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction. Mol Med Rep. 2014 10(4):2039-44. doi: 10.3892/mmr.2014.2401. 25051102 | ||||
| Other Cardiac Phenotype | Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants. J Physiol. 2015 593(18):4201-23. doi: 10.1113/JP270139. 26131924 | ||||
| Other Cardiac Phenotype | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | ||||
| Other Cardiac Phenotype | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | ||||
| p.R1193W | c.3577C>T | Putative Benign | rs192379242 | SIFT: deleterious Polyphen: possibly damaging | |