Paralogue Annotation for SCN5A residue 704

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 704
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 704

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AI720KSmall fibre neuropathyMedium6 21698661, 22035805

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------------WNR-LAQRYLIWECCPLW>M<SIKQGVKLVVMDPFTDLTITMCIVLNTLFM734
SCN1A------------WYK-FSNIFLIWDCSPYW>L<KVKHVVNLVVMDPFVDLAITICIVLNTLFM785
SCN2A------------WYK-FANMCLIWDCCKPW>L<KVKHLVNLVVMDPFVDLAITICIVLNTLFM776
SCN3A------------WYR-FANVFLIWDCCDAW>L<KVKHLVNLIVMDPFVDLAITICIVLNTLFM777
SCN4A------------WYK-CAHKVLIWNCCAPW>L<KFKNIIHLIVMDPFVDLGITICIVLNTLFM595
SCN7A------------WYK-FAKTFLIWNCSPCW>L<KLKEFVHRIIMAPFTDLFLIICIILNVCFL522
SCN8A------------WYK-FANTFLIWECHPYW>I<KLKEIVNLIVMDPFVDLAITICIVLNTLFM770
SCN9A------------WYR-FAHKFLIWNCSPYW>I<KFKKCIYFIVMDPFVDLAITICIVLNTLFM750
SCN10A------------LTS-LSQKYLIWDCCPMW>V<KLKTILFGLVTDPFAELTITLCIVVNTIFM682
SCN11A------------GEN-LASKYLVWNCCPQW>L<CVKKVLRTVMTDPFTELAITICIIINTVFL594
CACNA1A------------SIK-SAKLENSTFFHKKE>R<RMRFYIRRMVKTQAFYWTVLSLVALNTLCV504
CACNA1B------------SLK-SGKTESSSYFRRKE>K<MFRFFIRRMVKAQSFYWVVLCVVALNTLCV500
CACNA1C------------AHR-ISKSKFSRYWRRWN>R<FCRRKCRAAVKSNVFYWLVIFLVFLNTLTI541
CACNA1D------------GQA-ISKSKLSRRWRRWN>R<FNRRRCRAAVKSVTFYWLVIVLVFLNTLTI560
CACNA1E------------SIK-SAKVDGVSYFRHKE>R<LLRISIRHMVKSQVFYWIVLSLVALNTACV493
CACNA1F------------LNK-IMKTRVCRRLRRAN>R<VLRARCRRAVKSNACYWAVLLLVFLNTLTI546
CACNA1G---------------SLGPDAEPSSVLAFW>R<LICDTFRKIVDSKYFGRGIMIAILVNTLSM760
CACNA1HPG---PGSPQRRAQQRAAPGE-PGWMGRLW>V<TFSGKLRRIVDSKYFSRGIMMAILVNTLSM810
CACNA1IASSELG--KEEEEEE-QADGA-VWLCGDVW>R<ETRAKLRGIVDSKYFNRGIMMAILVNTVSM657
CACNA1S------------LNK-I--IQFIRHWRQWN>R<IFRWKCHDIVKSKVFYWLVILIVALNTLSI449
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 704 for SCN5A.