Paralogue Annotation for SCN5A residue 1590

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1590
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1590

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AG1593REpilepsy of infancy with migrating focal seizuresMedium9 26291284

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.



SCN5AAKINLLFVAIFTGECIVKLAALR-HYYFTN>S<WNIFDFVVVILSIVGTVLSDIIQ-------1613
SCN1ASRINLVFIVLFTGECVLKLISLR-HYYFTI>G<WNIFDFVVVILSIVGMFLAELIE-------1626
SCN2AYWINLVFIVLFTGECVLKLISLR-YYYFTI>G<WNIFDFVVVILSIVGMFLAELIE-------1616
SCN3ASRINLVFIVLFTGEFVLKLVSLR-HYYFTI>G<WNIFDFVVVILSIVGMFLAEMIE-------1611
SCN4AYNINMIFIIIFTGECVLKMLALR-QYYFTV>G<WNIFDFVVVILSIVGLALSDLIQ-------1438
SCN7AYWINSIFVMLYTMECILKLIAFR-CFYFTI>A<WNIFDFMVVIFSITGLCLPMTVG-------1336
SCN8AYWINLVFVIFFTCECVLKMFALR-HYYFTI>G<WNIFDFVVVILSIVGMFLADIIE-------1607
SCN9AYWINVVFIILFTGECVLKLISLR-HYYFTV>G<WNIFDFVVVIISIVGMFLADLIE-------1589
SCN10AGKINQFFVAVFTGECVMKMFALR-QYYFTN>G<WNVFDFIVVVLSIASLIFSAILKS------1562
SCN11ADHLNWVFVVIFTLECLIKIFALR-QYYFTN>G<WNLFDCVVVLLSIVSTMISTLENQ------1452
CACNA1ARVFNIVFTSLFSLECVLKVMAFGILNYFRD>A<WNIFDFVTVLGSITDILVTEFGNN------1653
CACNA1BKCLNIVFTSMFSMECVLKIIAFGVLNYFRD>A<WNVFDFVTVLGSITDILVTEIAET------1559
CACNA1CNILNMLFTGLFTVEMILKLIAFKPKHYFCD>A<WNTFDALIVVGSIVDIAITEVNPAE----H1308
CACNA1DDILNMVFTGVFTVEMVLKVIAFKPKGYFSD>A<WNTFDSLIVIGSIIDVALSEADPTE----S1314
CACNA1EKYLNIAFTMVFSLECVLKVIAFGFLNYFRD>T<WNIFDFITVIGSITEIILTDSKLV------1565
CACNA1FDILNMVFTGLFTIEMVLKIIAFKPKHYFTD>A<WNTFDALIVVGSIVDIAVTEVNNGG----H1279
CACNA1GKICNYIFTVIFVLESVFKLVAFGFRRFFQD>R<WNQLDLAIVLLSIMGITLEEIEVN------1698
CACNA1HKYCNYVFTIVFVFEAALKLVAFGFRRFFKD>R<WNQLDLAIVLLSLMGITLEEIEMS------1704
CACNA1IKYCNYMFTTVFVLEAVLKLVAFGLRRFFKD>R<WNQLDLAIVLLSVMGITLEEIEIN------1574
CACNA1SDILNVAFTIIFTLEMILKLMAFKARGYFGD>P<WNVFDFLIVIGSIIDVILSEIDTFLASSGG1211
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1590 for SCN5A.