Paralogue Annotation for SCN5A residue 1548

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1548
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1548

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1561KDravet syndromeHigh9 18930999

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.



SCN5AQGFIFDIVTKQAFDVTIMFLICLNMVTMMV>E<TDDQSPEKINILAKINLLFVAIFTGECIVK1578
SCN1AQGMVFDFVTRQVFDISIMILICLNMVTMMV>E<TDDQSEYVTTILSRINLVFIVLFTGECVLK1591
SCN2AQGMVFDFVTKQVFDISIMILICLNMVTMMV>E<TDDQSQEMTNILYWINLVFIVLFTGECVLK1581
SCN3AQGMVFDFVTRQVFDISIMILICLNMVTMMV>E<TDDQGKYMTLVLSRINLVFIVLFTGEFVLK1576
SCN4AQGMVYDLVTKQAFDITIMILICLNMVTMMV>E<TDNQSQLKVDILYNINMIFIIIFTGECVLK1403
SCN7AQGFIFDVVTSQAFNVIVMVLICFQAIAMMI>D<TDVQSLQMSIALYWINSIFVMLYTMECILK1301
SCN8AQGIVFDFVTQQAFDIVIMMLICLNMVTMMV>E<TDTQSKQMENILYWINLVFVIFFTCECVLK1572
SCN9AQGCIFDLVTNQAFDISIMVLICLNMVTMMV>E<KEGQSQHMTEVLYWINVVFIILFTGECVLK1554
SCN10AQGFVFDIVTRQAFDITIMVLICLNMITMMV>E<TDDQSEEKTKILGKINQFFVAVFTGECVMK1526
SCN11AQGLVFDIVTSQIFDIIIISLIILNMISMMA>E<SYNQPKAMKSILDHLNWVFVVIFTLECLIK1416
CACNA1AQYRMWQFVVSPPFEYTIMAMIALNTIVLMM>K<FYGASVAYENALRVFNIVFTSLFSLECVLK1616
CACNA1BQYKTWTFVVSPPFEYFIMAMIALNTVVLMM>K<FYDAPYEYELMLKCLNIVFTSMFSMECVLK1522
CACNA1CQYKVWYVVNSTYFEYLMFVLILLNTICLAM>Q<HYGQSCLFKIAMNILNMLFTGLFTVEMILK1269
CACNA1DQYKFWYVVNSSPFEYMMFVLIMLNTLCLAM>Q<HYEQSKMFNDAMDILNMVFTGVFTVEMVLK1275
CACNA1EQYRVWHFVVSPSFEYTIMAMIALNTVVLMM>K<YYSAPCTYELALKYLNIAFTMVFSLECVLK1528
CACNA1FQYRVWATVNSAAFEYLMFLLILLNTVALAM>Q<HYEQTAPFNYAMDILNMVFTGLFTIEMVLK1240
CACNA1GRLLVHHLCTSHYLDLFITGVIGLNVVTMAM>E<HYQQPQILDEALKICNYIFTVIFVLESVFK1661
CACNA1HRRSIHSLCTSHYLDLFITFIICVNVITMSM>E<HYNQPKSLDEALKYCNYVFTIVFVFEAALK1667
CACNA1IRLLIHSMCTSHYLDIFITFIICLNVVTMSL>E<HYNQPTSLETALKYCNYMFTTVFVLEAVLK1537
CACNA1SQYQVWYIVTSSYFEYLMFALIMLNTICLGM>Q<HYNQSEQMNHISDILNVAFTIIFTLEMILK1168
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1548Kc.4642G>A Inherited ArrhythmiaBrSrs199473271SIFT: 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