Paralogue Annotation for SCN5A residue 2006

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 2006
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 2006

No paralogue variants have been mapped to residue 2006 for SCN5A.



SCN5A---------------------------DFP>P<SPDRDRESIV2016
SCN1A------------------------------>-<KG-------K2009
SCN2A------------------------------>-<KGKDIRESKK2005
SCN3A------------------------------>-<KGKEVRENQK2000
SCN4A------------------------------>-<VRPGVKESLV1836
SCN7A------------------------------>-<-----IQSQI1682
SCN8A------------------------------>-<RQKEVRESKC1980
SCN9A------------------------------>-<KGKDSKESKK1977
SCN10A------------------------------>-<TSMELIAPGP1956
SCN11A------------------------------>-<---------D1791
CACNA1A---------------------------RSP>S<EGREHMAHRQ2261
CACNA1BCTLG-LS--------------SGGR--ARH>S<YHHPDQDHWC2340
CACNA1CDA----------GCV-----RARGRPSEEE>L<QDSRVYVSSL2138
CACNA1DSD----------E-E-----PDPGR-DEED>L<ADEMICITTL2181
CACNA1ERRRR-RG-----GPG-----PGMMCGAVNN>L<LSDTEEDDKC2313
CACNA1FSD----------E-E-----SILSRFDEED>L<GDEMACVHAL1977
CACNA1G------------------------------>-<---------P2377
CACNA1HPEKRRGLYLTVPQ-CPLEKPGSPSA--TPA>-<PG-GGADDPV2353
CACNA1I-------------------PQPLPG--ELE>-<PGDAASKRKR2223
CACNA1S--------------G-----SSLGSLDQHQ>G<SQETLIPPRL1873
cons                              > <          

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2006Ac.6016C>G ConflictSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7. 10961955
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007 115(3):368-76. 17210841
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.P2006Lc.6017C>T Putative BenignSIFT: tolerated
Polyphen: benign
ReportsPutative 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.P2006Rc.6017C>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7. 10961955