Paralogue Annotation for SCN5A residue 1490

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1490
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1490

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1503KMyoclonic epilepsy of infancyHigh4 19783390, 23195492
SCN1AE1503GDravet syndromeMedium3 23398550

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.



SCN5AFTLNLFIGVIIDNFNQQKKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1505
SCN1AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1518
SCN2AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1508
SCN3AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1503
SCN4AFTLNLFIGVIIDNFNQQKKKLGGKDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1330
SCN7ALPLSMLITVIIDNFNKHKIKLGGSNIFITV>K<QRKQY------RRL---KK-L----M-YED1228
SCN8AFTLNLFIGVIIDNFNQQKKKFGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1499
SCN9AFTLNLFIGVIIDNFNQQKKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1481
SCN10AFTLNLFVGVIIDNFNQQKKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1453
SCN11AFTLNLFIGVIIDNFNQQQKKLGGQDIFMTE>E<QKKYY------NAM---KK-L----G-SKK1343
CACNA1AFFVNIFVALIIITFQEQGDKM----MEEYS>L<EKNER------ACI---DFAI------SAK1542
CACNA1BFFVNIFVALIIITFQEQGDKV----MSECS>L<EKNER------ACI---DFAI------SAK1448
CACNA1CFMMNIFVGFVIVTFQEQGEQE----YKNCE>L<DKNQR------QCV---EYAL------KAR1197
CACNA1DFMMNIFVGFVIVTFQEQGEKE----YKNCE>L<DKNQR------QCV---EYAL------KAR1203
CACNA1EFFVNIFVALIIITFQEQGDKM----MEECS>L<EKNER------ACI---DFAI------SAK1454
CACNA1FFMMNIFVGFVIITFRAQGEQE----YQNCE>L<DKNQR------QCV---EYAL------KAQ1168
CACNA1GFVLNMFVGVVVENFHKCRQHQEEEEARRRE>E<KRLRRLEKKRRNLML--DDVI-----ASGS1580
CACNA1HFVLNMFVGVVVENFHKCRQHQEAEEARRRE>E<K----------RLRRLERRRRSTFPSPEAQ1595
CACNA1IFVLNMFVGVVVENFHKCRQHQEAEEARRRE>E<K----------RLRRLEKKRR------KAQ1465
CACNA1SFMMNIFVGFVIVTFQEQGETE----YKNCE>L<DKNQR------QCV---QYAL------KAR1096
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1490 for SCN5A.