Paralogue Annotation for SCN5A residue 524

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 524
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 524

No paralogue variants have been mapped to residue 524 for SCN5A.



SCN5A--------------HLSLTRGLSRTSMKPR>S<SRG--SIF------T--FRR-----R-DLG538
SCN1AEGNRLTYEKRYSSPHQSLLSIRGSLFSPRR>N<SRT--SLF------S--FRG---RAK-DVG585
SCN2AEGSRLTYEKRFSSPHQSLLSIRGSLFSPRR>N<SRA--SLF------S--FRG---RAK-DIG588
SCN3ADGNRLTSDKKFCSPHQSLLSIRGSLFSPRR>N<SKT--SIF------S--FRG---RAK-DVG588
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8AD-NRIG--RKFSIMNQSLLSIPGSPFLSRH>N<SKS--SIF------S--FRGPG-RFR-DPG578
SCN9AEGHRRAHEKRLSTPNQSPLSIRGSLFSARR>S<SRT--SLF------S--FKG---RGR-DIG565
SCN10A----------------RRMSFLGLASGKRR>A<SHG--SVF------H--FRS---PGR-DIS515
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<PFDG-ALR------R--TTI---K-K----428
CACNA1B------------------------------>-<PLDA-VLK------R--AAT---K-K----424
CACNA1C------------------------------>-<---EEKPR------N--MSM---P-----T468
CACNA1D------------------------------>-<---E-GKR------N--TSM---P-----T468
CACNA1E------------------------------>-<L--E-VLR------R--ATI---K-R----417
CACNA1F------------------------------>-<---E-G-RAGHRPQL--AEL---T-NRRRG449
CACNA1GVH------HHHHHHHHYHL-GNGTLRAPRA>S<PEIQ-DRD------ANGSRRLMLP-P----536
CACNA1HYH------HHHHHHHHYHF-SHGSPRRPGP>E<PGAC-DTR------LVR-----AG-A----555
CACNA1IDE------GRHLGSRHCQT-LHGP------>-<------------------------------512
CACNA1S------------------------------>-<--------------S--LDE---G-----G392
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S524Yc.1571C>A ConflictSIFT: deleterious
Polyphen: possibly damaging
ReportsBenign 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
Other Cardiac Phenotype A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 116(2):430-5. 16453024
Other Cardiac Phenotype Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005 2(7):741-7. 15992732
Other Cardiac Phenotype Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594