Paralogue Annotation for SCN5A residue 558

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 558
Reference Amino Acid: H - Histidine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 558

No paralogue variants have been mapped to residue 558 for SCN5A.



SCN5A----SEA-------DFADDENSTAGESESH>H<TSLLVPWPL--RRT-SA---QGQPSPGTSA582
SCN1A----SEN-------DFADDEHSTFEDNESR>R<DSLFVPRRHGERRN-----------SNLSQ624
SCN2A----SEN-------DFADDEHSTFEDNDSR>R<DSLFVPHRHGERRH-----------SNVSQ627
SCN3A----SEN-------DFADDEHSTFEDSESR>R<DSLFVPHRHGERRN-----------SNVSQ627
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A----SEN-------EFADDEHSTVEESEGR>R<DSLFIPIRARERRS------SYSGYSGYSQ622
SCN9A----SET-------EFADDEHSIFGDNESR>R<GSLFVPHRPQERRS-----------SNISQ604
SCN10A----LPE-------GVTDDG-VFPGDHESH>R<GSLLLGGGAGQQG------------PLPRS552
SCN11A------------------------------>-<------------------------------
CACNA1A----SKT----------------------->-<------------------------------431
CACNA1B----SRN----------------------->-<------------------------------427
CACNA1C----SET----------------------->-<------------------------------471
CACNA1D----SET----------------------->-<------------------------------471
CACNA1E----SRT----------------------->-<------------------------------420
CACNA1FLRWFSHS----------------------->-<------------------------------457
CACNA1G----PS-TPALSGAPPGGAESVHSFYHADC>H<LEPVRCQAPP---PRSPSEASG-RTV--GS586
CACNA1H----PPSPPSPGRGPPD-AESVHSIYHADC>H<IEGPQERARVAHAAATA-AASL-R-LATGL608
CACNA1I-----A--------SPGNDHSGRELCPQHS>P<LDATPHTLVQPIPA----------------544
CACNA1S----SDT----------------------->-<------------------------------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H558Rc.1673A>G ConflictSIFT: tolerated
Polyphen: benign
ReportsPutative Benign Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet. 2000 45(3):182-3. 10807545
Inherited ArrhythmiaLQTS Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ Res. 2001 89(2):E16-21. 11463728
Putative Benign Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 105(16):1943-8. 11997281
Inherited ArrhythmiaBrS A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest. 2003 111(3):341-6. 12569159
Inherited ArrhythmiaBrS 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
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS [Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group]. Sheng Li Xue Bao. 2004 56(1):36-40. 14985827
Inherited ArrhythmiaBrS 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 Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693
Inherited ArrhythmiaBrS R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet. 2005 author reply e8. 15689442
Putative Benign Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet. 2005 13(11):1213-22. 16132053
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
Inherited ArrhythmiaBrS A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. Can J Cardiol. 2005 21(11):925-31. 16239976
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
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 Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. Heart Rhythm. 2007 4(8):1072-80. 17675083
Inherited ArrhythmiaLQTS Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias. J Electrocardiol. 2007 40(6 Suppl):S26-9. 17993325
Putative Benign Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A. 2007 104(52):20990-5. 18093912
Inherited ArrhythmiaLQTS The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases. Europace. 2008 10(1):79-85. 18156160
Other Cardiac Phenotype Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort. Circ J. 2008 72(4):592-7. 18362431
Other Cardiac Phenotype Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444
Other Cardiac Phenotype Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death? Forensic Sci Int Genet. 2007 1(2):170-4. 19083750
Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
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