Paralogue Annotation for SCN5A residue 806

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 806
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 806

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AV581MHemiplegic migraineHigh9 18644040, 21431381
CACNA1AV581LHemiplegic migraine, cerebellar dysfunction & cognHigh9 21035146

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.



SCN5AWNIFDSIIVILSLMELGLSRMS-----NLS>V<LRSFRLLRVFKLAKSWPTLNTLIKIIGNSV836
SCN1AWNIFDGFIVTLSLVELGLANVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV887
SCN2AWNIFDGFIVSLSLMELGLANVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV878
SCN3AWNIFDGIIVSLSLMELGLSNVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV879
SCN4AWNIFDSIIVTLSLVELGLANVQ-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV697
SCN7AWNIFDSMIVFHGLIELCLANVA-----GMA>L<LRLFRMLRIFKLGKYWPTFQILMWSLSNSW624
SCN8AWNIFDGFIVSLSLMELSLADVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV872
SCN9AWNIFDSLIVTLSLVELFLADVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV852
SCN10AWNIFDCIIVTVSLLELGVAKKG-----SLS>V<LRSFRLLRVFKLAKSWPTLNTLIKIIGNSV784
SCN11AWNIFDSIVALLSFADVMNCVLQKR---SWP>F<LRSFRVLRVFKLAKSWPTLNTLIKIIGNSV698
CACNA1AFNCFDCGVIIGSIFEVIWAVIKPGTSFGIS>V<LRALRLLRIFKVTKYWASLRNLVVSLLNSM611
CACNA1BFNCFDFGVIVGSVFEVVWAAIKPGSSFGIS>V<LRALRLLRIFKVTKYWSSLRNLVVSLLNSM607
CACNA1CFNRFDCFVVCGGILETILVETKIMSPLGIS>V<LRCVRLLRIFKITRYWNSLSNLVASLLNSV648
CACNA1DFNRFDCFVVCGGITETILVELEIMSPLGIS>V<FRCVRLLRIFKVTRHWTSLSNLVASLLNSM667
CACNA1EFNCFDFGVTVGSIFEVVWAIFRPGTSFGIS>V<LRALRLLRIFKITKYWASLRNLVVSLMSSM600
CACNA1FFNRFDCFVVCGGILETTLVEVGAMQPLGIS>V<LRCVRLLRIFKVTRHWASLSNLVASLLNSM653
CACNA1GYNIFDGVIVVISVWEIVGQQGG-----GLS>V<LRTFRLMRVLKLVRFLPALQRQLVVLMKTM862
CACNA1HYNIFDGIIVVISVWEIVGQADG-----GLS>V<LRTFRLLRVLKLVRFLPALRRQLVVLVKTM912
CACNA1IYNIFDSIIVIISIWEIVGQADG-----GLS>V<LRTFRLLRVLKLVRFMPALRRQLVVLMKTM759
CACNA1SFNRFDCFVVCSGILEILLVESGAMTPLGIS>V<LRCIRLLRIFKITKYWTSLSNLVASLLNSI556
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V806Mc.2416G>A Putative BenignSIFT:
Polyphen: