Paralogue Annotation for SCN5A residue 1778

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1778
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1778

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1792TMyoclonic epilepsy of infancyHigh9 23195492
SCN1AA1792GDravet syndromeHigh9 23808377

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.



SCN5AGILFFTTYIIISFLIVVNMYIAIILENFSV>A<TEESTEPLSEDDFDMFYEIWEKFDPEATQF1808
SCN1AGIFFFVSYIIISFLVVVNMYIAVILENFSV>A<TEESAEPLSEDDFEMFYEVWEKFDPDATQF1822
SCN2AGIFFFVSYIIISFLVVVNMYIAVILENFSV>A<TEESAEPLSEDDFEMFYEVWEKFDPDATQF1812
SCN3AGIFFFVSYIIISFLVVVNMYIAVILENFSV>A<TEESAEPLSEDDFEMFYEVWEKFDPDATQF1807
SCN4AGICFFCSYIIISFLIVVNMYIAIILENFNV>A<TEESSEPLGEDDFEMFYETWEKFDPDATQF1634
SCN7AGIFYFVSYILISWLIIVNMYIVVVMEFLNI>A<SKKKNKTLSEDDFRKFFQVWKRFDPDRTQY1532
SCN8AGIFFFVSYIIISFLIVVNMYIAIILENFSV>A<TEESADPLSEDDFETFYEIWEKFDPDATQF1802
SCN9AGIFYFVSYIIISFLVVVNMYIAVILENFSV>A<TEESTEPLSEDDFEMFYEVWEKFDPDATQF1785
SCN10AGIIFFTTYIIISFLIMVNMYIAVILENFNV>A<TEESTEPLSEDDFDMFYETWEKFDPEATQF1758
SCN11AATSYFVSYIIISFLIVVNMYIAVILENFNT>A<TEESEDPLGEDDFDIFYEVWEKFDPEATQF1640
CACNA1AAYFYFVSFIFLCSFLMLNLFVAVIMDNFEY>L<TRDSSI-LGPHHLDEYVRVWAEYDPAACGR1846
CACNA1BAYFYFVSFIFLCSFLMLNLFVAVIMDNFEY>L<TRDSSI-LGPHHLDEFIRVWAEYDPAACGR1744
CACNA1CAVFYFISFYMLCAFLIINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKRIWAEYDPEAKGR1511
CACNA1DAIVYFISFYMLCAFLIINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKRIWSEYDPEAKGR1519
CACNA1EAYVYFVSFIFFCSFLMLNLFVAVIMDNFEY>L<TRDSSI-LGPHHLDEFVRVWAEYDRAACGR1758
CACNA1FAIAYFISFFMLCAFLIINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKRIWSEYDPGAKGR1476
CACNA1GSPIYFVSFVLTAQFVLVNVVIAVLMKHLEE>S<NKEAKE---EAELEAELELEMKT-LSPQPH1883
CACNA1HSPVYFVTFVLVAQFVLVNVVVAVLMKHLEE>S<NKEARE---DAELDAEIELEMAQGPGSARR1893
CACNA1ISPLYFVSFVLTAQFVLINVVVAVLMKHLDD>S<NKEAQE---DAEMDAELELEMAHGLGPGPR1763
CACNA1SAYYYFISFYMLCAFLVINLFVAVIMDNFDY>L<TRDWSI-LGPHHLDEFKAIWAEYDPEAKGR1416
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1778 for SCN5A.