Paralogue Annotation for SCN5A residue 1519

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1519
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1519

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AG1522AEpileptic encephalopathyHigh9 25818041, 26445390

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.



SCN5A----G-SKKP--------QKPIPRPLNKYQ>G<FIFDIVTKQAFDVTIMFLICLNMVTMMVET1549
SCN1A----G-SKKP--------QKPIPRPGNKFQ>G<MVFDFVTRQVFDISIMILICLNMVTMMVET1562
SCN2A----G-SKKP--------QKPIPRPANKFQ>G<MVFDFVTKQVFDISIMILICLNMVTMMVET1552
SCN3A----G-SKKP--------QKPIPRPANKFQ>G<MVFDFVTRQVFDISIMILICLNMVTMMVET1547
SCN4A----G-SKKP--------QKPIPRPQNKIQ>G<MVYDLVTKQAFDITIMILICLNMVTMMVET1374
SCN7A----M-YEDS--------QRPVPRPLNKLQ>G<FIFDVVTSQAFNVIVMVLICFQAIAMMIDT1272
SCN8A----G-SKKP--------QKPIPRPLNKIQ>G<IVFDFVTQQAFDIVIMMLICLNMVTMMVET1543
SCN9A----G-SKKP--------QKPIPRPGNKIQ>G<CIFDLVTNQAFDISIMVLICLNMVTMMVEK1525
SCN10A----G-SKKP--------QKPIPRPLNKFQ>G<FVFDIVTRQAFDITIMVLICLNMITMMVET1497
SCN11A----G-SKKP--------QKPIPRPLNKCQ>G<LVFDIVTSQIFDIIIISLIILNMISMMAES1387
CACNA1A------SAKP-------LTRHMPQNKQSFQ>Y<RMWQFVVSPPFEYTIMAMIALNTIVLMMKF1587
CACNA1B------SAKP-------LTRYMPQNRQSFQ>Y<KTWTFVVSPPFEYFIMAMIALNTVVLMMKF1493
CACNA1C------KARP-------LRRYIPK--NQHQ>Y<KVWYVVNSTYFEYLMFVLILLNTICLAMQH1240
CACNA1D------KARP-------LRRYIPK--NPYQ>Y<KFWYVVNSSPFEYMMFVLIMLNTLCLAMQH1246
CACNA1E------SAKP-------LTRYMPQNRHTFQ>Y<RVWHFVVSPSFEYTIMAMIALNTVVLMMKY1499
CACNA1F------KAQP-------LRRYIPK--NPHQ>Y<RVWATVNSAAFEYLMFLLILLNTVALAMQH1211
CACNA1G-----ASGSSASAASEAQCKPYYSDYSRFR>L<LVHHLCTSHYLDLFITGVIGLNVVTMAMEH1632
CACNA1HSTFPSPEAQ---------RRPYYADYSPTR>R<SIHSLCTSHYLDLFITFIICVNVITMSMEH1638
CACNA1I------KAQ---------RLPYYATYCHTR>L<LIHSMCTSHYLDIFITFIICLNVVTMSLEH1508
CACNA1S------KARP-------LRCYIPK--NPYQ>Y<QVWYIVTSSYFEYLMFALIMLNTICLGMQH1139
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1519 for SCN5A.