Paralogue Annotation for SCN5A residue 837

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 837
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 837

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AG879REpileptic encephalopathy, early infantileHigh9 25473036
SCN11AG699RPainful peripheral neuropathyHigh9 25791876, 25791876

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.



SCN5ALRSFRLLRVFKLAKSWPTLNTLIKIIGNSV>G<ALGNLTLVLAIIVFIFAVVGMQLFGKNYSE867
SCN1ALRSFRLLRVFKLAKSWPTLNMLIKIIGNSV>G<ALGNLTLVLAIIVFIFAVVGMQLFGKSYKD918
SCN2ALRSFRLLRVFKLAKSWPTLNMLIKIIGNSV>G<ALGNLTLVLAIIVFIFAVVGMQLFGKSYKE909
SCN3ALRSFRLLRVFKLAKSWPTLNMLIKIIGNSV>G<ALGNLTLVLAIIVFIFAVVGMQLFGKSYKE910
SCN4ALRSFRLLRVFKLAKSWPTLNMLIKIIGNSV>G<ALGNLTLVLAIIVFIFAVVGMQLFGKSYKE728
SCN7ALRLFRMLRIFKLGKYWPTFQILMWSLSNSW>V<ALKDLVLLLFTFIFFSAAFGMKLFGKNYEE655
SCN8ALRSFRLLRVFKLAKSWPTLNMLIKIIGNSV>G<ALGNLTLVLAIIVFIFAVVGMQLFGKSYKE903
SCN9ALRSFRLLRVFKLAKSWPTLNMLIKIIGNSV>G<ALGNLTLVLAIIVFIFAVVGMQLFGKSYKE883
SCN10ALRSFRLLRVFKLAKSWPTLNTLIKIIGNSV>G<ALGNLTIILAIIVFVFALVGKQLLGENYRN815
SCN11ALRSFRVLRVFKLAKSWPTLNTLIKIIGNSV>G<ALGSLTVVLVIVIFIFSVVGMQLFGRSFNS729
CACNA1ALRALRLLRIFKVTKYWASLRNLVVSLLNSM>K<SIISLLFLLFLFIVVFALLGMQLFGGQFNF642
CACNA1BLRALRLLRIFKVTKYWSSLRNLVVSLLNSM>K<SIISLLFLLFLFIVVFALLGMQLFGGQFNF638
CACNA1CLRCVRLLRIFKITRYWNSLSNLVASLLNSV>R<SIASLLLLLFLFIIIFSLLGMQLFGGKFNF679
CACNA1DFRCVRLLRIFKVTRHWTSLSNLVASLLNSM>K<SIASLLLLLFLFIIIFSLLGMQLFGGKFNF698
CACNA1ELRALRLLRIFKITKYWASLRNLVVSLMSSM>K<SIISLLFLLFLFIVVFALLGMQLFGGRFNF631
CACNA1FLRCVRLLRIFKVTRHWASLSNLVASLLNSM>K<SIASLLLLLFLFIIIFSLLGMQLFGGKFNF684
CACNA1GLRTFRLMRVLKLVRFLPALQRQLVVLMKTM>D<NVATFCMLLMLFIFIFSILGMHLFGCKFAS893
CACNA1HLRTFRLLRVLKLVRFLPALRRQLVVLVKTM>D<NVATFCTLLMLFIFIFSILGMHLFGCKFSL943
CACNA1ILRTFRLLRVLKLVRFMPALRRQLVVLMKTM>D<NVATFCMLLMLFIFIFSILGMHIFGCKFSL790
CACNA1SLRCIRLLRIFKITKYWTSLSNLVASLLNSI>R<SIASLLLLLFLFIVIFALLGMQLFGGRYDF587
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 837 for SCN5A.