Paralogue Annotation for SCN5A residue 831

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 831
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 831

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AI873MEpileptic encephalopathy, early infantile with movHigh9 26993267

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.



SCN5A--NLSVLRSFRLLRVFKLAKSWPTLNTLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF861
SCN1A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF912
SCN2A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF903
SCN3A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF904
SCN4A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF722
SCN7A--GMALLRLFRMLRIFKLGKYWPTFQILMW>S<LSNSWVALKDLVLLLFTFIFFSAAFGMKLF649
SCN8A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF897
SCN9A--GLSVLRSFRLLRVFKLAKSWPTLNMLIK>I<IGNSVGALGNLTLVLAIIVFIFAVVGMQLF877
SCN10A--SLSVLRSFRLLRVFKLAKSWPTLNTLIK>I<IGNSVGALGNLTIILAIIVFVFALVGKQLL809
SCN11A--SWPFLRSFRVLRVFKLAKSWPTLNTLIK>I<IGNSVGALGSLTVVLVIVIFIFSVVGMQLF723
CACNA1ASFGISVLRALRLLRIFKVTKYWASLRNLVV>S<LLNSMKSIISLLFLLFLFIVVFALLGMQLF636
CACNA1BSFGISVLRALRLLRIFKVTKYWSSLRNLVV>S<LLNSMKSIISLLFLLFLFIVVFALLGMQLF632
CACNA1CPLGISVLRCVRLLRIFKITRYWNSLSNLVA>S<LLNSVRSIASLLLLLFLFIIIFSLLGMQLF673
CACNA1DPLGISVFRCVRLLRIFKVTRHWTSLSNLVA>S<LLNSMKSIASLLLLLFLFIIIFSLLGMQLF692
CACNA1ESFGISVLRALRLLRIFKITKYWASLRNLVV>S<LMSSMKSIISLLFLLFLFIVVFALLGMQLF625
CACNA1FPLGISVLRCVRLLRIFKVTRHWASLSNLVA>S<LLNSMKSIASLLLLLFLFIIIFSLLGMQLF678
CACNA1G--GLSVLRTFRLMRVLKLVRFLPALQRQLV>V<LMKTMDNVATFCMLLMLFIFIFSILGMHLF887
CACNA1H--GLSVLRTFRLLRVLKLVRFLPALRRQLV>V<LVKTMDNVATFCTLLMLFIFIFSILGMHLF937
CACNA1I--GLSVLRTFRLLRVLKLVRFMPALRRQLV>V<LMKTMDNVATFCMLLMLFIFIFSILGMHIF784
CACNA1SPLGISVLRCIRLLRIFKITKYWTSLSNLVA>S<LLNSIRSIASLLLLLFLFIVIFALLGMQLF581
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 831 for SCN5A.