Paralogue Annotation for SCN5A residue 1596

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1596
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1596

No paralogue variants have been mapped to residue 1596 for SCN5A.



SCN5AFVAIFTGECIVKLAALR-HYYFTNSWNIFD>F<VVVILSIVGTVLSDIIQ-------------1613
SCN1AFIVLFTGECVLKLISLR-HYYFTIGWNIFD>F<VVVILSIVGMFLAELIE-------------1626
SCN2AFIVLFTGECVLKLISLR-YYYFTIGWNIFD>F<VVVILSIVGMFLAELIE-------------1616
SCN3AFIVLFTGEFVLKLVSLR-HYYFTIGWNIFD>F<VVVILSIVGMFLAEMIE-------------1611
SCN4AFIIIFTGECVLKMLALR-QYYFTVGWNIFD>F<VVVILSIVGLALSDLIQ-------------1438
SCN7AFVMLYTMECILKLIAFR-CFYFTIAWNIFD>F<MVVIFSITGLCLPMTVG-------------1336
SCN8AFVIFFTCECVLKMFALR-HYYFTIGWNIFD>F<VVVILSIVGMFLADIIE-------------1607
SCN9AFIILFTGECVLKLISLR-HYYFTVGWNIFD>F<VVVIISIVGMFLADLIE-------------1589
SCN10AFVAVFTGECVMKMFALR-QYYFTNGWNVFD>F<IVVVLSIASLIFSAILKS------------1562
SCN11AFVVIFTLECLIKIFALR-QYYFTNGWNLFD>C<VVVLLSIVSTMISTLENQ------------1452
CACNA1AFTSLFSLECVLKVMAFGILNYFRDAWNIFD>F<VTVLGSITDILVTEFGNN------------1653
CACNA1BFTSMFSMECVLKIIAFGVLNYFRDAWNVFD>F<VTVLGSITDILVTEIAET------------1559
CACNA1CFTGLFTVEMILKLIAFKPKHYFCDAWNTFD>A<LIVVGSIVDIAITEVNPAE----HTQ----1310
CACNA1DFTGVFTVEMVLKVIAFKPKGYFSDAWNTFD>S<LIVIGSIIDVALSEADPTE----SENVPVP1320
CACNA1EFTMVFSLECVLKVIAFGFLNYFRDTWNIFD>F<ITVIGSITEIILTDSKLV------------1565
CACNA1FFTGLFTIEMVLKIIAFKPKHYFTDAWNTFD>A<LIVVGSIVDIAVTEVNNGG----HLG----1281
CACNA1GFTVIFVLESVFKLVAFGFRRFFQDRWNQLD>L<AIVLLSIMGITLEEIEVN------------1698
CACNA1HFTIVFVFEAALKLVAFGFRRFFKDRWNQLD>L<AIVLLSLMGITLEEIEMS------------1704
CACNA1IFTTVFVLEAVLKLVAFGLRRFFKDRWNQLD>L<AIVLLSVMGITLEEIEIN------------1574
CACNA1SFTIIFTLEMILKLMAFKARGYFGDPWNVFD>F<LIVIGSIIDVILSEIDTFLASSGGLYCLGG1217
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1596Ic.4786T>A Inherited ArrhythmiaLQTS,AFSIFT: deleterious
Polyphen: probably damaging
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 Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc Res. 2011 89(4):786-93. 21051419
Inherited ArrhythmiaAF High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113
Other Cardiac Phenotype SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction. Mol Med Rep. 2014 10(4):2039-44. doi: 10.3892/mmr.2014.2401. 25051102
Inherited ArrhythmiaLQTS Polygenic Case of Long QT Syndrome Confirmed through Functional Characterization Informs the Interpretation of Genetic Screening Results. HeartRhythm Case Rep. 2015 1(4):201-205. 26213684
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.F1596Cc.4787T>G Putative BenignSIFT:
Polyphen: