Paralogue Annotation for SCN5A residue 1773

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1773
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1773

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1787KMyoclonic epilepsy of infancyHigh9 17561957

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.



SCN5AGSPAVGILFFTTYIIISFLIVVNMYIAIIL>E<NFSVATEESTEPLSEDDFDMFYEIWEKFDP1803
SCN1AGNPSVGIFFFVSYIIISFLVVVNMYIAVIL>E<NFSVATEESAEPLSEDDFEMFYEVWEKFDP1817
SCN2AGNPSVGIFFFVSYIIISFLVVVNMYIAVIL>E<NFSVATEESAEPLSEDDFEMFYEVWEKFDP1807
SCN3AGNPSVGIFFFVSYIIISFLVVVNMYIAVIL>E<NFSVATEESAEPLSEDDFEMFYEVWEKFDP1802
SCN4AGNPSIGICFFCSYIIISFLIVVNMYIAIIL>E<NFNVATEESSEPLGEDDFEMFYETWEKFDP1629
SCN7AGNPSVGIFYFVSYILISWLIIVNMYIVVVM>E<FLNIASKKKNKTLSEDDFRKFFQVWKRFDP1527
SCN8AGNPSVGIFFFVSYIIISFLIVVNMYIAIIL>E<NFSVATEESADPLSEDDFETFYEIWEKFDP1797
SCN9AGNPSVGIFYFVSYIIISFLVVVNMYIAVIL>E<NFSVATEESTEPLSEDDFEMFYEVWEKFDP1780
SCN10AGSPAVGIIFFTTYIIISFLIMVNMYIAVIL>E<NFNVATEESTEPLSEDDFDMFYETWEKFDP1753
SCN11AHLPGIATSYFVSYIIISFLIVVNMYIAVIL>E<NFNTATEESEDPLGEDDFDIFYEVWEKFDP1635
CACNA1AGN-EFAYFYFVSFIFLCSFLMLNLFVAVIM>D<NFEYLTRDSSI-LGPHHLDEYVRVWAEYDP1841
CACNA1BGS-DFAYFYFVSFIFLCSFLMLNLFVAVIM>D<NFEYLTRDSSI-LGPHHLDEFIRVWAEYDP1739
CACNA1CGS-SFAVFYFISFYMLCAFLIINLFVAVIM>D<NFDYLTRDWSI-LGPHHLDEFKRIWAEYDP1506
CACNA1DGS-NFAIVYFISFYMLCAFLIINLFVAVIM>D<NFDYLTRDWSI-LGPHHLDEFKRIWSEYDP1514
CACNA1EGT-DLAYVYFVSFIFFCSFLMLNLFVAVIM>D<NFEYLTRDSSI-LGPHHLDEFVRVWAEYDR1753
CACNA1FGS-NFAIAYFISFFMLCAFLIINLFVAVIM>D<NFDYLTRDWSI-LGPHHLDEFKRIWSEYDP1471
CACNA1GNT-VISPIYFVSFVLTAQFVLVNVVIAVLM>K<HLEESNKEAKE---EAELEAELELEMKT-L1878
CACNA1HLP-ALSPVYFVTFVLVAQFVLVNVVVAVLM>K<HLEESNKEARE---DAELDAEIELEMAQGP1888
CACNA1ILQ-FVSPLYFVSFVLTAQFVLINVVVAVLM>K<HLDDSNKEAQE---DAEMDAELELEMAHGL1758
CACNA1SGT-NFAYYYFISFYMLCAFLVINLFVAVIM>D<NFDYLTRDWSI-LGPHHLDEFKAIWAEYDP1411
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1773 for SCN5A.