Paralogue Annotation for SCN5A residue 1427

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1427
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1427

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1440EDravet syndromeHigh9 23808377
SCN1AA1440VAutism spectrum disorderHigh9 26637798

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.



SCN5AKVKVNFDNVGAGYLALLQVATFKGWMDIMY>A<AVDSRGYEEQPQWEYNLYMYIYFVIFIIFG1457
SCN1ANVKVNFDNVGFGYLSLLQVATFKGWMDIMY>A<AVDSRNVELQPKYEESLYMYLYFVIFIIFG1470
SCN2ANVKVNFDNVGLGYLSLLQVATFKGWMDIMY>A<AVDSRNVELQPKYEDNLYMYLYFVIFIIFG1460
SCN3ANVKVNFDNVGAGYLALLQVATFKGWMDIMY>A<AVDSRDVKLQPVYEENLYMYLYFVIFIIFG1455
SCN4ANVKVNYDNVGLGYLSLLQVATFKGWMDIMY>A<AVDSREKEEQPQYEVNLYMYLYFVIFIIFG1282
SCN7ANAKMNFDNVGNGFLSLLQVATFNGWITIMN>S<AIDSVAVNIQPHFEVNIYMYCYFINFIIFG1180
SCN8ANVKINFDNVGAGYLALLQVATFKGWMDIMY>A<AVDSRKPDEQPKYEDNIYMYIYFVIFIIFG1451
SCN9ANLKVNFDNVGLGYLSLLQVATFKGWTIIMY>A<AVDSVNVDKQPKYEYSLYMYIYFVVFIIFG1433
SCN10ANVKVNFDNVAMGYLALLQVATFKGWMDIMY>A<AVDSREVNMQPKWEDNVYMYLYFVIFIIFG1405
SCN11ANQKVNFDNVGNAYLALLQVATFKGWMDIIY>A<AVDSTEKEQQPEFESNSLGYIYFVVFIIFG1295
CACNA1AKYEFHYDNVLWALLTLFTVSTGEGWPQVLK>H<SVDATFENQGPSPGYRMEMSIFYVVYFVVF1498
CACNA1BKYDFHYDNVLWALLTLFTVSTGEGWPMVLK>H<SVDATYEEQGPSPGYRMELSIFYVVYFVVF1404
CACNA1CNSKFDFDNVLAAMMALFTVSTFEGWPELLY>R<SIDSHTEDKGPIYNYRVEISIFFIIYIIII1153
CACNA1DNSDFNFDNVLSAMMALFTVSTFEGWPALLY>K<AIDSNGENIGPIYNHRVEISIFFIIYIIIV1159
CACNA1ERHEFHYDNIIWALLTLFTVSTGEGWPQVLQ>H<SVDVTEEDRGPSRSNRMEMSIFYVVYFVVF1410
CACNA1FNSDFNFDNVLSAMMALFTVSTFEGWPALLY>K<AIDAYAEDHGPIYNYRVEISVFFIVYIIII1124
CACNA1GRHKYNFDNLGQALMSLFVLASKDGWVDIMY>D<GLDAVGVDQQPIMNHNPWMLLYFISFLLIV1524
CACNA1HRRKYNFDNLGQALMSLFVLSSKDGWVNIMY>D<GLDAVGVDQQPVQNHNPWMLLYFISFLLIV1542
CACNA1IHHKYNFDNLGQALMSLFVLASKDGWVNIMY>N<GLDAVAVDQQPVTNHNPWMLLYFISFLLIV1418
CACNA1SHSDFHFDNVLSAMMSLFTVSTFEGWPQLLY>K<AIDSNAEDVGPIYNNRVEMAIFFIIYIILI1052
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1427Sc.4279G>T Inherited ArrhythmiaBrSrs199473244SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS 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
Inherited ArrhythmiaBrS A rare loss-of-function SCN5A variant is associated with lidocaine-induced ventricular fibrillation. Pharmacogenomics J. 2014 14(4):372-5. doi: 10.1038/tpj.2013.50. 24445991