Paralogue Annotation for SCN5A residue 707

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 707
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 707

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FR519QNight blindness, congenital stationary, incompleteMedium8 9662399, 16476079, 22995991
CACNA1AR477HEpilepsy, idiopathicMedium8 21703448
CACNA1FR519WRetinitis pigmentosaMedium8 26075273, 26436388

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-LAQRYLIWECCPLWMSI>K<QGVKLVVMDPFTDLTITMCIVLNTLFMALE737
SCN1A---------WYK-FSNIFLIWDCSPYWLKV>K<HVVNLVVMDPFVDLAITICIVLNTLFMAME788
SCN2A---------WYK-FANMCLIWDCCKPWLKV>K<HLVNLVVMDPFVDLAITICIVLNTLFMAME779
SCN3A---------WYR-FANVFLIWDCCDAWLKV>K<HLVNLIVMDPFVDLAITICIVLNTLFMAME780
SCN4A---------WYK-CAHKVLIWNCCAPWLKF>K<NIIHLIVMDPFVDLGITICIVLNTLFMAME598
SCN7A---------WYK-FAKTFLIWNCSPCWLKL>K<EFVHRIIMAPFTDLFLIICIILNVCFLTLE525
SCN8A---------WYK-FANTFLIWECHPYWIKL>K<EIVNLIVMDPFVDLAITICIVLNTLFMAME773
SCN9A---------WYR-FAHKFLIWNCSPYWIKF>K<KCIYFIVMDPFVDLAITICIVLNTLFMAME753
SCN10A---------LTS-LSQKYLIWDCCPMWVKL>K<TILFGLVTDPFAELTITLCIVVNTIFMAME685
SCN11A---------GEN-LASKYLVWNCCPQWLCV>K<KVLRTVMTDPFTELAITICIIINTVFLAME597
CACNA1A---------SIK-SAKLENSTFFHKKERRM>R<FYIRRMVKTQAFYWTVLSLVALNTLCVAIV507
CACNA1B---------SLK-SGKTESSSYFRRKEKMF>R<FFIRRMVKAQSFYWVVLCVVALNTLCVAMV503
CACNA1C---------AHR-ISKSKFSRYWRRWNRFC>R<RKCRAAVKSNVFYWLVIFLVFLNTLTIASE544
CACNA1D---------GQA-ISKSKLSRRWRRWNRFN>R<RRCRAAVKSVTFYWLVIVLVFLNTLTISSE563
CACNA1E---------SIK-SAKVDGVSYFRHKERLL>R<ISIRHMVKSQVFYWIVLSLVALNTACVAIV496
CACNA1F---------LNK-IMKTRVCRRLRRANRVL>R<ARCRRAVKSNACYWAVLLLVFLNTLTIASE549
CACNA1G------------SLGPDAEPSSVLAFWRLI>C<DTFRKIVDSKYFGRGIMIAILVNTLSMGIE763
CACNA1H--PGSPQRRAQQRAAPGE-PGWMGRLWVTF>S<GKLRRIVDSKYFSRGIMMAILVNTLSMGVE813
CACNA1IELG--KEEEEEE-QADGA-VWLCGDVWRET>R<AKLRGIVDSKYFNRGIMMAILVNTVSMGIE660
CACNA1S---------LNK-I--IQFIRHWRQWNRIF>R<WKCHDIVKSKVFYWLVILIVALNTLSIASE452
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 707 for SCN5A.