Gene:
SCN5A
sodium channel, voltage-gated, type V, alpha subunit

PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.

PharmGKB contains no clinical annotations for this gene. To report clinical variants, click here.

PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(build 132) 		Alternate Names ? Drugs ? Alleles ?
(+ chr strand) 		Function ? Amino Acid?
Translation
rs1805124 SCN5A:H558R, c.1673A>G, g.38585420T>C, g.38620424T>C, g.50744A>G, p.His558Arg
T > G
T > A
T > C
 Missense
His558Arg
No VIP available No Clinical Annotations available VA
rs1805125
G > A
 Missense
Pro1089Leu
No VIP available No Clinical Annotations available VA
rs41313691
G > T
G > C
G > A
 Missense
Ser524Tyr
No VIP available No Clinical Annotations available VA
rs41315493
C > A
 Missense
Val1951Leu
rs6791924 SCN5A:R34C, c.100C>T, g.21465C>T, g.38614699G>A, p.Arg34Cys
G > A
 Missense
Arg34Cys
rs7626962 SCN5A:S1103Y, c.3228+1515C>A, c.3305C>A, c.3308C>A, g.38560907G>A, g.38560907G>C, g.38560907G>T, g.38595911G>T, g.75257C>A, p.Ser1102Tyr, p.Ser1103Tyr
G > T
G > C
G > A
 Missense
Ser1102Tyr
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP build 132

Overview

Alternate Names:  OTTHUMP00000209279; OTTHUMP00000209280; OTTHUMP00000209281; OTTHUMP00000209282; OTTHUMP00000209283; OTTHUMP00000209284; Sodium channel, voltage-gated, type V, alpha polypeptide; cardiac sodium channel alpha subunit; cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit; cardiomyopathy, dilated 1E (autosomal dominant); sodium channel protein cardiac muscle subunit alpha; sodium channel protein type 5 subunit alpha; sodium channel protein type V alpha subunit; sodium channel protein type V subunit alpha; sodium channel, voltage-gated, type V, alpha (long QT syndrome 3); sodium channel, voltage-gated, type V, alpha polypeptide (long (electrocardiographic) QT syndrome 3); voltage-gated sodium channel subunit alpha Nav1.5; voltage-gated sodium channel type V alpha
Alternate Symbols:  CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1
Haplotypes: SCN5A Haplotype A; SCN5A Haplotype B; SCN5A Haplotype C
PharmGKB Accession Id: PA304

Details

Cytogenetic Location: chr3 : p22.2 - p22.2
GP mRNA Boundary†: chr3 : 38589553 - 38691163
GP Gene Boundary†: chr3 : 38586553 - 38701163
Strand: minus
Product Name: No data available
† The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

All alleles are displayed on the positive chromosomal strand.

Download Haplotype Data (CSV)

Haplotype rs9825294
SCN5A Haplotype A A
SCN5A Haplotype B G
SCN5A Haplotype C A

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Antiarrhythmic Pathway, Pharmacodynamics
    Pharmacodynamic pathway of antiarrhythmic drugs in a stylized cardiac myocyte.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
amiodarone
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
cocaine
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
disopyramide
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
flecainide
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
lidocaine
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
lithium
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
mexiletine
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
procainamide
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
propafenone
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
quinidine
Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
non-selective monoamine reuptake inhibitors

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Arrhythmias, Cardiac
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Brugada syndrome
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Heart Block
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Long QT Syndrome
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Sick Sinus Syndrome
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA VIP No VIP available
Sudden Infant Death
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Ventricular Fibrillation

Publications related to SCN5A: 30

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of drugs withdrawn from the market. Pharmacogenomics. 2012. Zhang Wei, et al. [Article:22256871@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SCN5A Variation is Associated with Electrocardiographic Traits in the Jackson Heart Study. Circulation. Cardiovascular genetics. 2011. Jeff Janina M, et al. [Article:21325150@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Drug- and non-drug-associated QT interval prolongation. British journal of clinical pharmacology. 2010. van Noord Charlotte, et al. [Article:20642543@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Brugada syndrome: lots of questions, some answers. Heart rhythm : the official journal of the Heart Rhythm Society. 2010. Roden Dan M. [Article:20129284@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation. Heart rhythm : the official journal of the Heart Rhythm Society. 2010. Yang Tao, et al. [Article:20638934@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Drug-induced long QT syndrome. Pharmacological reviews. 2010. Kannankeril Prince, et al. [Article:21079043@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation. Circulation. Arrhythmia and electrophysiology. 2009. Watanabe Hiroshi, et al. [Article:19808477@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Arrhythmia pharmacogenomics: methodological considerations. Current pharmaceutical design. 2009. Roden Dan M, et al. [Article:19925424@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common variants at ten loci influence QT interval duration in the QTGEN Study. Nature genetics. 2009. Newton-Cheh Christopher, et al. [Article:19305408@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circulation. Arrhythmia and electrophysiology. 2008. Wang Dao W, et al. [Article:19808432@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. Journal of medical genetics. 2008. Sun A, et al. [Article:18245395@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. The Journal of clinical investigation. 2008. Makita Naomasa, et al. [Article:18451998@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A common polymorphism in SCN5A is associated with lone atrial fibrillation. Clinical pharmacology and therapeutics. 2007. Chen L Y, et al. [Article:17185997@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects. European journal of human genetics : EJHG. 2007. Gouas L, et al. [Article:17534376@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. American journal of human genetics. 2006. Li Duanxiang, et al. [Article:17186461@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation. 2006. Poelzing Steven, et al. [Article:16864729@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. The Journal of clinical investigation. 2006. Plant Leigh D, et al. [Article:16453024@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart rhythm : the official journal of the Heart Rhythm Society. 2005. Tan Bi-Hua, et al. [Article:15992732@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. Circulation. 2004. Miller Todd E, et al. [Article:15184283@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
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 : the official journal of the Heart Rhythm Society. 2004. Ackerman Michael J, et al. [Article:15851227@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA VIP No VIP available
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circulation research. 2003. Makielski Jonathan C, et al. [Article:14500339@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. The Journal of clinical investigation. 2003. Viswanathan Prakash C, et al. [Article:12569159@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002. Yang Ping, et al. [Article:11997281@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science (New York, N.Y.). 2002. Splawski Igor, et al. [Article:12193783@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000. Splawski I, et al. [Article:10973849@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
"Brugada" syndrome: clinical data and suggested pathophysiological mechanism. Circulation. 1999. Alings M, et al. [Article:9950665@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation. 1996. Roden D M, et al. [Article:8873679@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995. Wang Q, et al. [Article:7889574@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 1995. Schwartz P J, et al. [Article:8521555@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proceedings of the National Academy of Sciences of the United States of America. 1992. Gellens M E, et al. [Article:1309946@PubMed]
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