Paralogue Annotation for SCN5A residue 1826

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1826
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1826

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG1494RNight blindness, congenital stationary, incompleteMedium7 25307992

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AEIWEKFDPEATQFIEYSVLSDFADALSEPL>R<--IAK--PNQI---SLINMDLPMVSGD-RI1848
SCN1AEVWEKFDPDATQFMEFEKLSQFAAALEPPL>N<--LPQ--PNKL---QLIAMDLPMVSGD-RI1862
SCN2AEVWEKFDPDATQFIEFAKLSDFADALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI1852
SCN3AEVWEKFDPDATQFIEFSKLSDFAAALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI1847
SCN4AETWEKFDPDATQFIAYSRLSDFVDTLQEPL>R<--IAK--PNKI---KLITLDLPMVPGD-KI1674
SCN7AQVWKRFDPDRTQYIDSSKLSDFAAALDPPL>F<--MAK--PNKG---QLIALDLPMAVGD-RI1572
SCN8AEIWEKFDPDATQFIEYCKLADFADALEHPL>R<--VPK--PNTI---ELIAMDLPMVSGD-RI1842
SCN9AEVWEKFDPDATQFIEFSKLSDFAAALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI1825
SCN10AETWEKFDPEATQFITFSALSDFADTLSGPL>R<--IPK--PNRN---ILIQMDLPLVPGD-KI1798
SCN11AEVWEKFDPEATQFIKYSALSDFADALPEPL>R<--VAK--PNKY---QFLVMDLPMVSED-RL1680
CACNA1ARVWAEYDPAACGRIHYKDMYSLLRVISPPL>G<--LGKKCPHRVACKRLLRMDLPVADD-NTV1891
CACNA1BRVWAEYDPAACGRISYNDMFEMLKHMSPPL>G<--LGKKCPARVAYKRLVRMNMPISNEDMTV1790
CACNA1CRIWAEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKLCPHRVACKRLVSMNMPLNSDG-TV1556
CACNA1DRIWSEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKLCPHRVACKRLVAMNMPLNSDG-TV1564
CACNA1ERVWAEYDRAACGRIHYTEMYEMLTLMSPPL>G<--LGKRCPSKVAYKRLVLMNMPVAED-MTV1803
CACNA1FRIWSEYDPGAKGRIKHLDVVALLRRIQPPL>G<--FGKLCPHRVACKRLVAMNMPLNSDG-TV1521
CACNA1GELEMKT-LSPQPHSPLGSPF-LWPGVEGPD>S<--PDSPKPGAL---------HPAAHA-RSA1918
CACNA1HELEMAQGPGSARRVDADRP---------PL>P<--QESPG--AR--------DAPN-------1913
CACNA1IELEMAHGLGPGPRLPTGSPGAPGR---GPG>G<AGGGGDT--EG---GLCRRCYSPAQE-N--1800
CACNA1SAIWAEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKFCPHRVACKRLVGMNMPLNSDG-TV1461
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1826Cc.5476C>T Inherited ArrhythmiaAFSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaAF Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609
p.R1826Hc.5477G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001 286(18):2264-9. 11710892
Inherited 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
Other Cardiac Phenotype Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283
Other Cardiac Phenotype Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381