Paralogue Annotation for SCN5A residue 1794

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1794
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1794

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1808IDravet syndromeHigh8 18930999
SCN1AF1808LMyoclonic epilepsy of infancyHigh8 12566275, 16210358

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.



SCN5AVNMYIAIILENFSVATEESTEPLSEDDFDM>F<YEIWEKFDPEATQFIEYSVLSDFADALSEP1824
SCN1AVNMYIAVILENFSVATEESAEPLSEDDFEM>F<YEVWEKFDPDATQFMEFEKLSQFAAALEPP1838
SCN2AVNMYIAVILENFSVATEESAEPLSEDDFEM>F<YEVWEKFDPDATQFIEFAKLSDFADALDPP1828
SCN3AVNMYIAVILENFSVATEESAEPLSEDDFEM>F<YEVWEKFDPDATQFIEFSKLSDFAAALDPP1823
SCN4AVNMYIAIILENFNVATEESSEPLGEDDFEM>F<YETWEKFDPDATQFIAYSRLSDFVDTLQEP1650
SCN7AVNMYIVVVMEFLNIASKKKNKTLSEDDFRK>F<FQVWKRFDPDRTQYIDSSKLSDFAAALDPP1548
SCN8AVNMYIAIILENFSVATEESADPLSEDDFET>F<YEIWEKFDPDATQFIEYCKLADFADALEHP1818
SCN9AVNMYIAVILENFSVATEESTEPLSEDDFEM>F<YEVWEKFDPDATQFIEFSKLSDFAAALDPP1801
SCN10AVNMYIAVILENFNVATEESTEPLSEDDFDM>F<YETWEKFDPEATQFITFSALSDFADTLSGP1774
SCN11AVNMYIAVILENFNTATEESEDPLGEDDFDI>F<YEVWEKFDPEATQFIKYSALSDFADALPEP1656
CACNA1ALNLFVAVIMDNFEYLTRDSSI-LGPHHLDE>Y<VRVWAEYDPAACGRIHYKDMYSLLRVISPP1862
CACNA1BLNLFVAVIMDNFEYLTRDSSI-LGPHHLDE>F<IRVWAEYDPAACGRISYNDMFEMLKHMSPP1760
CACNA1CINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KRIWAEYDPEAKGRIKHLDVVTLLRRIQPP1527
CACNA1DINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KRIWSEYDPEAKGRIKHLDVVTLLRRIQPP1535
CACNA1ELNLFVAVIMDNFEYLTRDSSI-LGPHHLDE>F<VRVWAEYDRAACGRIHYTEMYEMLTLMSPP1774
CACNA1FINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KRIWSEYDPGAKGRIKHLDVVALLRRIQPP1492
CACNA1GVNVVIAVLMKHLEESNKEAKE---EAELEA>E<LELEMKT-LSPQPHSPLGSPF-LWPGVEGP1898
CACNA1HVNVVVAVLMKHLEESNKEARE---DAELDA>E<IELEMAQGPGSARRVDADRP---------P1900
CACNA1IINVVVAVLMKHLDDSNKEAQE---DAEMDA>E<LELEMAHGLGPGPRLPTGSPGAPGR---GP1776
CACNA1SINLFVAVIMDNFDYLTRDWSI-LGPHHLDE>F<KAIWAEYDPEAKGRIKHLDVVTLLRRIQPP1432
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1794 for SCN5A.