Paralogue Annotation for SCN5A residue 572

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 572
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 572

No paralogue variants have been mapped to residue 572 for SCN5A.



SCN5ADDENSTAGESESHHTSLLVPWPL--RRT-S>A<---QGQPSPGTSA----P--GHALHGKKNS593
SCN1ADDEHSTFEDNESRRDSLFVPRRHGERRN-->-<--------SNLSQ----T--SRSSRMLAVF635
SCN2ADDEHSTFEDNDSRRDSLFVPHRHGERRH-->-<--------SNVSQ----A--SRASRVLPIL638
SCN3ADDEHSTFEDSESRRDSLFVPHRHGERRN-->-<--------SNVSQ----A--SMSSRMVPGL638
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ADDEHSTVEESEGRRDSLFIPIRARERRS-->-<---SYSGYSGYSQ----G--SRSSRIFPSL633
SCN9ADDEHSIFGDNESRRGSLFVPHRPQERRS-->-<--------SNISQ----A--SRSP---PML612
SCN10ADDG-VFPGDHESHRGSLLLGGGAGQQG--->-<--------PLPRSPLPQP--SNP------D561
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GGAESVHSFYHADCHLEPVRCQAPP---PRS>P<SEASG-RTV--GS----G--KVYPTVHTSP597
CACNA1H-AESVHSIYHADCHIEGPQERARVAHAAAT>A<-AASL-R-LATGL----GTMN-YPTILPSG620
CACNA1INDHSGRELCPQHSPLDATPHTLVQPIPA-->-<------------------------------544
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A572Dc.1715C>A Conflictrs36210423SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem. 2002 277(50):48610-6. 12354768
Inherited ArrhythmiaLQTS Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. Genet Test. 2003 7(1):57-61. 12820704
Inherited ArrhythmiaLQTS Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642
Inherited ArrhythmiaLQTS 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
Other Cardiac Phenotype Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064
Inherited ArrhythmiaLQTS Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
Other Cardiac Phenotype Cardiac sodium channel gene variants and sudden cardiac death in women. Circulation. 2008 117(1):16-23. 18071069
Inherited ArrhythmiaLQTS Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm. 2010 7(7):912-9. 20403459
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 Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease. Circulation. 2012 126(17):2084-94. doi: 10.1161/CIRCULATIONAHA.112.1 23008441
Unknown Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008 1(1):21-6. 19412328
Other Disease Phenotype Whole-exome sequencing of a family with local anesthetic resistance. Minerva Anestesiol. 2016 82(10):1089-1097. 27243970
Other Disease 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
Other Disease Phenotype Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3. 27287068
p.A572Gc.1715C>G Putative Benignrs36210423SIFT: tolerated
Polyphen: benign
p.A572Sc.1714G>T Inherited ArrhythmiaLQTSrs184442491SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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
Inherited ArrhythmiaLQTS Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.A572Vc.1715C>T Inherited ArrhythmiaLQTSrs36210423SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594