Paralogue Annotation for SCN5A residue 833

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 833
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 833

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AL608FHemiplegic migraine and chronic headacheMedium9 26814174
SCN1AG884DDravet syndromeHigh9 27236449

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.



SCN5ANLSVLRSFRLLRVFKLAKSWPTLNTLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK863
SCN1AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK914
SCN2AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK905
SCN3AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK906
SCN4AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK724
SCN7AGMALLRLFRMLRIFKLGKYWPTFQILMWSL>S<NSWVALKDLVLLLFTFIFFSAAFGMKLFGK651
SCN8AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK899
SCN9AGLSVLRSFRLLRVFKLAKSWPTLNMLIKII>G<NSVGALGNLTLVLAIIVFIFAVVGMQLFGK879
SCN10ASLSVLRSFRLLRVFKLAKSWPTLNTLIKII>G<NSVGALGNLTIILAIIVFVFALVGKQLLGE811
SCN11ASWPFLRSFRVLRVFKLAKSWPTLNTLIKII>G<NSVGALGSLTVVLVIVIFIFSVVGMQLFGR725
CACNA1AGISVLRALRLLRIFKVTKYWASLRNLVVSL>L<NSMKSIISLLFLLFLFIVVFALLGMQLFGG638
CACNA1BGISVLRALRLLRIFKVTKYWSSLRNLVVSL>L<NSMKSIISLLFLLFLFIVVFALLGMQLFGG634
CACNA1CGISVLRCVRLLRIFKITRYWNSLSNLVASL>L<NSVRSIASLLLLLFLFIIIFSLLGMQLFGG675
CACNA1DGISVFRCVRLLRIFKVTRHWTSLSNLVASL>L<NSMKSIASLLLLLFLFIIIFSLLGMQLFGG694
CACNA1EGISVLRALRLLRIFKITKYWASLRNLVVSL>M<SSMKSIISLLFLLFLFIVVFALLGMQLFGG627
CACNA1FGISVLRCVRLLRIFKVTRHWASLSNLVASL>L<NSMKSIASLLLLLFLFIIIFSLLGMQLFGG680
CACNA1GGLSVLRTFRLMRVLKLVRFLPALQRQLVVL>M<KTMDNVATFCMLLMLFIFIFSILGMHLFGC889
CACNA1HGLSVLRTFRLLRVLKLVRFLPALRRQLVVL>V<KTMDNVATFCTLLMLFIFIFSILGMHLFGC939
CACNA1IGLSVLRTFRLLRVLKLVRFMPALRRQLVVL>M<KTMDNVATFCMLLMLFIFIFSILGMHIFGC786
CACNA1SGISVLRCIRLLRIFKITKYWTSLSNLVASL>L<NSIRSIASLLLLLFLFIVIFALLGMQLFGG583
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G833Rc.2497G>A Inherited ArrhythmiaLQTSrs45475899SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
Inherited ArrhythmiaLQTS Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594