No paralogue variants have been mapped to residue 2006 for SCN5A.
SCN5A | ---------------------------DFP>P<SPDRDRESIV | 2016 |
SCN1A | ------------------------------>-<KG-------K | 2009 |
SCN2A | ------------------------------>-<KGKDIRESKK | 2005 |
SCN3A | ------------------------------>-<KGKEVRENQK | 2000 |
SCN4A | ------------------------------>-<VRPGVKESLV | 1836 |
SCN7A | ------------------------------>-<-----IQSQI | 1682 |
SCN8A | ------------------------------>-<RQKEVRESKC | 1980 |
SCN9A | ------------------------------>-<KGKDSKESKK | 1977 |
SCN10A | ------------------------------>-<TSMELIAPGP | 1956 |
SCN11A | ------------------------------>-<---------D | 1791 |
CACNA1A | ---------------------------RSP>S<EGREHMAHRQ | 2261 |
CACNA1B | CTLG-LS--------------SGGR--ARH>S<YHHPDQDHWC | 2340 |
CACNA1C | DA----------GCV-----RARGRPSEEE>L<QDSRVYVSSL | 2138 |
CACNA1D | SD----------E-E-----PDPGR-DEED>L<ADEMICITTL | 2181 |
CACNA1E | RRRR-RG-----GPG-----PGMMCGAVNN>L<LSDTEEDDKC | 2313 |
CACNA1F | SD----------E-E-----SILSRFDEED>L<GDEMACVHAL | 1977 |
CACNA1G | ------------------------------>-<---------P | 2377 |
CACNA1H | PEKRRGLYLTVPQ-CPLEKPGSPSA--TPA>-<PG-GGADDPV | 2353 |
CACNA1I | -------------------PQPLPG--ELE>-<PGDAASKRKR | 2223 |
CACNA1S | --------------G-----SSLGSLDQHQ>G<SQETLIPPRL | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2006A | c.6016C>G | Conflict | rs45489199 | SIFT: tolerated Polyphen: benign | |
Reports | Inherited Arrhythmia | LQTS | The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7. 10961955 | ||
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 | Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539 | |||
Other Cardiac Phenotype | High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11. 16712702 | ||||
Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
Inherited Arrhythmia | LQTS | Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER). Circulation. 2009 120(4):278-85. 19597050 | |||
Inherited Arrhythmia | LQTS | A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm. 2011 8(3):455-62. 21109022 | |||
Other Cardiac Phenotype | Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease. Pacing Clin Electrophysiol. 2011 34(6):742-9. doi: 10.1111/j.1540-8159.2011.03045.x 21410720 | ||||
Inherited Arrhythmia | LQTS | Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm. 2011 8(3):412-9. 21070882 | |||
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 | Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007 115(3):368-76. 17210841 | |||
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 | 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 | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | |||
Inherited Arrhythmia | LQTS | 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 | |||
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 | ||||
Inherited Arrhythmia | LQTS | 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.P2006L | c.6017C>T | Putative Benign | rs199473338 | SIFT: tolerated Polyphen: benign | |
Reports | Putative Benign | Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. Chin Med J (Engl). 2004 117(5):652-6. 15161528 | |||
Putative Benign | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | ||||
p.P2006R | c.6017C>G | Inherited Arrhythmia | LQTS | rs199473338 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7. 10961955 |