Paralogue Annotation for SCN5A residue 1409

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1409
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1409

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1422CMyoclonic epilepsy of infancyHigh9 17054684

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.



SCN5AKSQCESLNLTGE--LYWTKVKVNFDNVGAG>Y<LALLQVATFKGWMDIMYAAVDSRGYEEQPQ1439
SCN1AHTDCLKLIERNET-ARWKNVKVNFDNVGFG>Y<LSLLQVATFKGWMDIMYAAVDSRNVELQPK1452
SCN2AYSECKALIESNQT-ARWKNVKVNFDNVGLG>Y<LSLLQVATFKGWMDIMYAAVDSRNVELQPK1442
SCN3ALSDCQALGK--Q--ARWKNVKVNFDNVGAG>Y<LALLQVATFKGWMDIMYAAVDSRDVKLQPV1437
SCN4AKSECESLMHTGQ--VRWLNVKVNYDNVGLG>Y<LSLLQVATFKGWMDIMYAAVDSREKEEQPQ1264
SCN7AKSRCESLLFNES--MLWENAKMNFDNVGNG>F<LSLLQVATFNGWITIMNSAIDSVAVNIQPH1162
SCN8AKTECEKLMEGNNTEIRWKNVKINFDNVGAG>Y<LALLQVATFKGWMDIMYAAVDSRKPDEQPK1433
SCN9ARSECFALMNVSQN-VRWKNLKVNFDNVGLG>Y<LSLLQVATFKGWTIIMYAAVDSVNVDKQPK1415
SCN10AKSDCKIQNSTGS--FFWVNVKVNFDNVAMG>Y<LALLQVATFKGWMDIMYAAVDSREVNMQPK1387
SCN11AKSQCESGN------FSWINQKVNFDNVGNA>Y<LALLQVATFKGWMDIIYAAVDSTEKEQQPE1277
CACNA1AKNEVK----AR--DREWKKYEFHYDNVLWA>L<LTLFTVSTGEGWPQVLKHSVDATFENQGPS1480
CACNA1BKEEVE----AQ--PRQWKKYDFHYDNVLWA>L<LTLFTVSTGEGWPMVLKHSVDATYEEQGPS1386
CACNA1CDGEVDHP-IIQ--PRSWENSKFDFDNVLAA>M<MALFTVSTFEGWPELLYRSIDSHTEDKGPI1135
CACNA1DDGDVDSP-VVR--ERIWQNSDFNFDNVLSA>M<MALFTVSTFEGWPALLYKAIDSNGENIGPI1141
CACNA1EKNKME----VK--GREWKRHEFHYDNIIWA>L<LTLFTVSTGEGWPQVLQHSVDVTEEDRGPS1392
CACNA1FDGDVSRP-LVR--ERLWVNSDFNFDNVLSA>M<MALFTVSTFEGWPALLYKAIDAYAEDHGPI1106
CACNA1GKSDCA----EA--SYRWVRHKYNFDNLGQA>L<MSLFVLASKDGWVDIMYDGLDAVGVDQQPI1506
CACNA1HKAQCR----AA--HYRWVRRKYNFDNLGQA>L<MSLFVLSSKDGWVNIMYDGLDAVGVDQQPV1524
CACNA1IRSDCM----AA--NYRWVHHKYNFDNLGQA>L<MSLFVLASKDGWVNIMYNGLDAVAVDQQPV1400
CACNA1SDGDPMQI-ELR--HREWVHSDFHFDNVLSA>M<MSLFTVSTFEGWPQLLYKAIDSNAEDVGPI1034
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1409Cc.4226A>G Inherited ArrhythmiaBrSrs199473610SIFT: 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 Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861