Paralogue Annotation for SCN5A residue 1789

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1789
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1789

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HA1874VAutism spectrum disorder ?Medium8 16754686
SCN2AD1793NEpilepsy, idiopathic High8 21703448

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.



SCN5ASFLIVVNMYIAIILENFSVATEESTEPLSE>D<DFDMFYEIWEKFDPEATQFIEYSVLSDFAD1819
SCN1ASFLVVVNMYIAVILENFSVATEESAEPLSE>D<DFEMFYEVWEKFDPDATQFMEFEKLSQFAA1833
SCN2ASFLVVVNMYIAVILENFSVATEESAEPLSE>D<DFEMFYEVWEKFDPDATQFIEFAKLSDFAD1823
SCN3ASFLVVVNMYIAVILENFSVATEESAEPLSE>D<DFEMFYEVWEKFDPDATQFIEFSKLSDFAA1818
SCN4ASFLIVVNMYIAIILENFNVATEESSEPLGE>D<DFEMFYETWEKFDPDATQFIAYSRLSDFVD1645
SCN7ASWLIIVNMYIVVVMEFLNIASKKKNKTLSE>D<DFRKFFQVWKRFDPDRTQYIDSSKLSDFAA1543
SCN8ASFLIVVNMYIAIILENFSVATEESADPLSE>D<DFETFYEIWEKFDPDATQFIEYCKLADFAD1813
SCN9ASFLVVVNMYIAVILENFSVATEESTEPLSE>D<DFEMFYEVWEKFDPDATQFIEFSKLSDFAA1796
SCN10ASFLIMVNMYIAVILENFNVATEESTEPLSE>D<DFDMFYETWEKFDPEATQFITFSALSDFAD1769
SCN11ASFLIVVNMYIAVILENFNTATEESEDPLGE>D<DFDIFYEVWEKFDPEATQFIKYSALSDFAD1651
CACNA1ACSFLMLNLFVAVIMDNFEYLTRDSSI-LGP>H<HLDEYVRVWAEYDPAACGRIHYKDMYSLLR1857
CACNA1BCSFLMLNLFVAVIMDNFEYLTRDSSI-LGP>H<HLDEFIRVWAEYDPAACGRISYNDMFEMLK1755
CACNA1CCAFLIINLFVAVIMDNFDYLTRDWSI-LGP>H<HLDEFKRIWAEYDPEAKGRIKHLDVVTLLR1522
CACNA1DCAFLIINLFVAVIMDNFDYLTRDWSI-LGP>H<HLDEFKRIWSEYDPEAKGRIKHLDVVTLLR1530
CACNA1ECSFLMLNLFVAVIMDNFEYLTRDSSI-LGP>H<HLDEFVRVWAEYDRAACGRIHYTEMYEMLT1769
CACNA1FCAFLIINLFVAVIMDNFDYLTRDWSI-LGP>H<HLDEFKRIWSEYDPGAKGRIKHLDVVALLR1487
CACNA1GAQFVLVNVVIAVLMKHLEESNKEAKE---E>A<ELEAELELEMKT-LSPQPHSPLGSPF-LWP1893
CACNA1HAQFVLVNVVVAVLMKHLEESNKEARE---D>A<ELDAEIELEMAQGPGSARRVDADRP-----1899
CACNA1IAQFVLINVVVAVLMKHLDDSNKEAQE---D>A<EMDAELELEMAHGLGPGPRLPTGSPGAPGR1774
CACNA1SCAFLVINLFVAVIMDNFDYLTRDWSI-LGP>H<HLDEFKAIWAEYDPEAKGRIKHLDVVTLLR1427
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1789 for SCN5A.