Paralogue Annotation for SCN5A residue 1462

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1462
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1462

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1475SMyoclonic epilepsy of infancyHigh9 17054684

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.



SCN5ARGYEEQPQWEYNLYMYIYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKLGGQDIFMTEEQK1492
SCN1ARNVELQPKYEESLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1505
SCN2ARNVELQPKYEDNLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1495
SCN3ARDVKLQPVYEENLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1490
SCN4AREKEEQPQYEVNLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKLGGKDIFMTEEQK1317
SCN7AVAVNIQPHFEVNIYMYCYFINFIIFGVFLP>L<SMLITVIIDNFNKHKIKLGGSNIFITVKQR1215
SCN8ARKPDEQPKYEDNIYMYIYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1486
SCN9AVNVDKQPKYEYSLYMYIYFVVFIIFGSFFT>L<NLFIGVIIDNFNQQKKKLGGQDIFMTEEQK1468
SCN10AREVNMQPKWEDNVYMYLYFVIFIIFGGFFT>L<NLFVGVIIDNFNQQKKKLGGQDIFMTEEQK1440
SCN11ATEKEQQPEFESNSLGYIYFVVFIIFGSFFT>L<NLFIGVIIDNFNQQQKKLGGQDIFMTEEQK1330
CACNA1ATFENQGPSPGYRMEMSIFYVVYFVVFPFFF>V<NIFVALIIITFQEQGDKM----MEEYSLEK1529
CACNA1BTYEEQGPSPGYRMELSIFYVVYFVVFPFFF>V<NIFVALIIITFQEQGDKV----MSECSLEK1435
CACNA1CHTEDKGPIYNYRVEISIFFIIYIIIIAFFM>M<NIFVGFVIVTFQEQGEQE----YKNCELDK1184
CACNA1DNGENIGPIYNHRVEISIFFIIYIIIVAFFM>M<NIFVGFVIVTFQEQGEKE----YKNCELDK1190
CACNA1ETEEDRGPSRSNRMEMSIFYVVYFVVFPFFF>V<NIFVALIIITFQEQGDKM----MEECSLEK1441
CACNA1FYAEDHGPIYNYRVEISVFFIVYIIIIAFFM>M<NIFVGFVIITFRAQGEQE----YQNCELDK1155
CACNA1GVGVDQQPIMNHNPWMLLYFISFLLIVAFFV>L<NMFVGVVVENFHKCRQHQEEEEARRREEKR1559
CACNA1HVGVDQQPVQNHNPWMLLYFISFLLIVSFFV>L<NMFVGVVVENFHKCRQHQEAEEARRREEK-1576
CACNA1IVAVDQQPVTNHNPWMLLYFISFLLIVSFFV>L<NMFVGVVVENFHKCRQHQEAEEARRREEK-1452
CACNA1SNAEDVGPIYNNRVEMAIFFIIYIILIAFFM>M<NIFVGFVIVTFQEQGETE----YKNCELDK1083
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1462 for SCN5A.