No paralogue variants have been mapped to residue 558 for SCN5A.
SCN5A | ----SEA-------DFADDENSTAGESESH>H<TSLLVPWPL--RRT-SA---QGQPSPGTSA | 582 |
SCN1A | ----SEN-------DFADDEHSTFEDNESR>R<DSLFVPRRHGERRN-----------SNLSQ | 624 |
SCN2A | ----SEN-------DFADDEHSTFEDNDSR>R<DSLFVPHRHGERRH-----------SNVSQ | 627 |
SCN3A | ----SEN-------DFADDEHSTFEDSESR>R<DSLFVPHRHGERRN-----------SNVSQ | 627 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ----SEN-------EFADDEHSTVEESEGR>R<DSLFIPIRARERRS------SYSGYSGYSQ | 622 |
SCN9A | ----SET-------EFADDEHSIFGDNESR>R<GSLFVPHRPQERRS-----------SNISQ | 604 |
SCN10A | ----LPE-------GVTDDG-VFPGDHESH>R<GSLLLGGGAGQQG------------PLPRS | 552 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ----SKT----------------------->-<------------------------------ | 431 |
CACNA1B | ----SRN----------------------->-<------------------------------ | 427 |
CACNA1C | ----SET----------------------->-<------------------------------ | 471 |
CACNA1D | ----SET----------------------->-<------------------------------ | 471 |
CACNA1E | ----SRT----------------------->-<------------------------------ | 420 |
CACNA1F | LRWFSHS----------------------->-<------------------------------ | 457 |
CACNA1G | ----PS-TPALSGAPPGGAESVHSFYHADC>H<LEPVRCQAPP---PRSPSEASG-RTV--GS | 586 |
CACNA1H | ----PPSPPSPGRGPPD-AESVHSIYHADC>H<IEGPQERARVAHAAATA-AASL-R-LATGL | 608 |
CACNA1I | -----A--------SPGNDHSGRELCPQHS>P<LDATPHTLVQPIPA---------------- | 544 |
CACNA1S | ----SDT----------------------->-<------------------------------ | 395 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H558R | c.1673A>G | Conflict | rs1805124 | SIFT: tolerated Polyphen: benign | |
Reports | Putative 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 Arrhythmia | LQTS | 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 Arrhythmia | BrS | A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest. 2003 111(3):341-6. 12569159 | |||
Inherited Arrhythmia | BrS | 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 Arrhythmia | LQTS | 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 Arrhythmia | LQTS | [Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group]. Sheng Li Xue Bao. 2004 56(1):36-40. 14985827 | |||
Inherited Arrhythmia | BrS | 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 Arrhythmia | BrS | 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 Arrhythmia | BrS | 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 Arrhythmia | LQTS | 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 Arrhythmia | LQTS | 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 Arrhythmia | LQTS | 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 |