Paralogue Annotation for SCN5A residue 1731

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1731
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1731

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1744DGeneralized epilepsy with febrile seizures plusMedium7 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.



SCN5AMLCLFQITTSAGWDGLLSPILNTGPPYCDP>T<LPN-S-NGSRGD---CGSPAVGILFFTTYI1756
SCN1AMICLFQITTSAGWDGLLAPILNSKPPDCDP>N<KVN-PGSSVKGD---CGNPSVGIFFFVSYI1770
SCN2AMICLFQITTSAGWDGLLAPILNSGPPDCDP>D<KDH-PGSSVKGD---CGNPSVGIFFFVSYI1760
SCN3AMICLFQITTSAGWDGLLAPILNSAPPDCDP>D<TIH-PGSSVKGD---CGNPSVGIFFFVSYI1755
SCN4AIICLFEITTSAGWDGLLNPILNSGPPDCDP>N<LEN-PGTSVKGD---CGNPSIGICFFCSYI1582
SCN7AMLCLFQVAIFAGWDGMLDAIFNSKWSDCDP>D<KIN-PGTQVRGD---CGNPSVGIFYFVSYI1480
SCN8AMICLFQITTSAGWDGLLLPILN-RPPDCSL>D<KEH-PGSGFKGD---CGNPSVGIFFFVSYI1750
SCN9AMICLFQITTSAGWDGLLAPILNSKPPDCDP>K<KVH-PGSSVEGD---CGNPSVGIFYFVSYI1733
SCN10AMLCLFQITTSAGWDGLLSPILNTGPPYCDP>N<LPN-S-NGTRGD---CGSPAVGIIFFTTYI1706
SCN11AMLCLFQISTSAGWDSLLSPMLRSKES-CN->-<-------SSSEN---CHLPGIATSYFVSYI1588
CACNA1ALMLLFRSATGEAWHNIMLSCLSG--KPCDK>N<SGIL-----T-R--ECGN-EFAYFYFVSFI1795
CACNA1BLMLLFRSATGEAWHEIMLSCLSN--QACDE>-<--Q------A-NATECGS-DFAYFYFVSFI1693
CACNA1CVLLLFRCATGEAWQDIMLACMPG--KKCAP>E<SEP-SNSTEGETP--CGS-SFAVFYFISFY1460
CACNA1DVLLLFRCATGEAWQEIMLACLPG--KLCDP>E<SDY--NPGE-EYT--CGS-NFAIVYFISFY1468
CACNA1ELMLLFRSATGEAWQEIMLSCLGE--KGCEP>D<TTAPSGQNEN-E--RCGT-DLAYVYFVSFI1707
CACNA1FVLLLFRCATGEAWQEIMLASLPG--NRCDP>E<SDF--GPGE-EFT--CGS-NFAIAYFISFF1425
CACNA1GFLTLFRVSTGDNWNGIMKDTLRD----CDQ>E<ST-----C-------YNT-VISPIYFVSFV1835
CACNA1HFLTLFRVSTGDNWNGIMKDTLRE----CSR>E<DKH----C---LS--YLP-ALSPVYFVTFV1844
CACNA1IFLTLFQVSTGDNWNGIMKDTLRD----CTH>D<ERS----C---LS--SLQ-FVSPLYFVSFV1714
CACNA1SVLLLFRCATGEAWQEILLACSYG--KLCDP>E<SDY--APGE-EYT--CGT-NFAYYYFISFY1365
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1731 for SCN5A.