Paralogue Annotation for SCN5A residue 1497

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1497
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1497

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AC1535SHemiplegic migraineMedium3 15728280
SCN1AA1510ELennox-Gastaut syndromeMedium3 23934111

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.



SCN5AFNQQKKKLGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1510
SCN1AFNQQKKKFGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1523
SCN2AFNQQKKKFGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1513
SCN3AFNQQKKKFGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1508
SCN4AFNQQKKKLGGKDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1335
SCN7AFNKHKIKLGGSNIFITVKQRKQY------R>R<L---KK-L----M-YEDS--------QRPV1233
SCN8AFNQQKKKFGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1504
SCN9AFNQQKKKLGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1486
SCN10AFNQQKKKLGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1458
SCN11AFNQQQKKLGGQDIFMTEEQKKYY------N>A<M---KK-L----G-SKKP--------QKPI1348
CACNA1AFQEQGDKM----MEEYSLEKNER------A>C<I---DFAI------SAKP-------LTRHM1548
CACNA1BFQEQGDKV----MSECSLEKNER------A>C<I---DFAI------SAKP-------LTRYM1454
CACNA1CFQEQGEQE----YKNCELDKNQR------Q>C<V---EYAL------KARP-------LRRYI1203
CACNA1DFQEQGEKE----YKNCELDKNQR------Q>C<V---EYAL------KARP-------LRRYI1209
CACNA1EFQEQGDKM----MEECSLEKNER------A>C<I---DFAI------SAKP-------LTRYM1460
CACNA1FFRAQGEQE----YQNCELDKNQR------Q>C<V---EYAL------KAQP-------LRRYI1174
CACNA1GFHKCRQHQEEEEARRREEKRLRRLEKKRRN>L<ML--DDVI-----ASGSSASAASEAQCKPY1593
CACNA1HFHKCRQHQEAEEARRREEK----------R>L<RRLERRRRSTFPSPEAQ---------RRPY1599
CACNA1IFHKCRQHQEAEEARRREEK----------R>L<RRLEKKRR------KAQ---------RLPY1469
CACNA1SFQEQGETE----YKNCELDKNQR------Q>C<V---QYAL------KARP-------LRCYI1102
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1497 for SCN5A.