Paralogue Annotation for SCN5A residue 1584

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1584
Reference Amino Acid: H - Histidine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1584

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH1597RGeneralized epilepsy with febrile seizures plusHigh8 22944210

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.



SCN5AEKINILAKINLLFVAIFTGECIVKLAALR->H<YYFTNSWNIFDFVVVILSIVGTVLSDIIQ-1613
SCN1AYVTTILSRINLVFIVLFTGECVLKLISLR->H<YYFTIGWNIFDFVVVILSIVGMFLAELIE-1626
SCN2AEMTNILYWINLVFIVLFTGECVLKLISLR->Y<YYFTIGWNIFDFVVVILSIVGMFLAELIE-1616
SCN3AYMTLVLSRINLVFIVLFTGEFVLKLVSLR->H<YYFTIGWNIFDFVVVILSIVGMFLAEMIE-1611
SCN4ALKVDILYNINMIFIIIFTGECVLKMLALR->Q<YYFTVGWNIFDFVVVILSIVGLALSDLIQ-1438
SCN7AQMSIALYWINSIFVMLYTMECILKLIAFR->C<FYFTIAWNIFDFMVVIFSITGLCLPMTVG-1336
SCN8AQMENILYWINLVFVIFFTCECVLKMFALR->H<YYFTIGWNIFDFVVVILSIVGMFLADIIE-1607
SCN9AHMTEVLYWINVVFIILFTGECVLKLISLR->H<YYFTVGWNIFDFVVVIISIVGMFLADLIE-1589
SCN10AEKTKILGKINQFFVAVFTGECVMKMFALR->Q<YYFTNGWNVFDFIVVVLSIASLIFSAILKS1562
SCN11AAMKSILDHLNWVFVVIFTLECLIKIFALR->Q<YYFTNGWNLFDCVVVLLSIVSTMISTLENQ1452
CACNA1AAYENALRVFNIVFTSLFSLECVLKVMAFGI>L<NYFRDAWNIFDFVTVLGSITDILVTEFGNN1653
CACNA1BEYELMLKCLNIVFTSMFSMECVLKIIAFGV>L<NYFRDAWNVFDFVTVLGSITDILVTEIAET1559
CACNA1CLFKIAMNILNMLFTGLFTVEMILKLIAFKP>K<HYFCDAWNTFDALIVVGSIVDIAITEVNPA1306
CACNA1DMFNDAMDILNMVFTGVFTVEMVLKVIAFKP>K<GYFSDAWNTFDSLIVIGSIIDVALSEADPT1312
CACNA1ETYELALKYLNIAFTMVFSLECVLKVIAFGF>L<NYFRDTWNIFDFITVIGSITEIILTDSKLV1565
CACNA1FPFNYAMDILNMVFTGLFTIEMVLKIIAFKP>K<HYFTDAWNTFDALIVVGSIVDIAVTEVNNG1277
CACNA1GILDEALKICNYIFTVIFVLESVFKLVAFGF>R<RFFQDRWNQLDLAIVLLSIMGITLEEIEVN1698
CACNA1HSLDEALKYCNYVFTIVFVFEAALKLVAFGF>R<RFFKDRWNQLDLAIVLLSLMGITLEEIEMS1704
CACNA1ISLETALKYCNYMFTTVFVLEAVLKLVAFGL>R<RFFKDRWNQLDLAIVLLSVMGITLEEIEIN1574
CACNA1SQMNHISDILNVAFTIIFTLEMILKLMAFKA>R<GYFGDPWNVFDFLIVIGSIIDVILSEIDTF1205
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1584 for SCN5A.