Paralogue Annotation for SCN5A residue 845

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 845
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 845

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV896LDravet syndromeHigh9 18930999
SCN1AV896IDravet syndromeHigh9 22780858, 23195492
SCN1AV896FMyoclonic epilepsy, borderlineHigh9 23195492

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.



SCN5AVFKLAKSWPTLNTLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKNYSEL-RDS---871
SCN1AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKDC-VCK---922
SCN2AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---913
SCN3AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---914
SCN4AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---732
SCN7AIFKLGKYWPTFQILMWSLSNSWVALKDLVL>L<LFTFIFFSAAFGMKLFGKNYEEF-VCH---659
SCN8AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---907
SCN9AVFKLAKSWPTLNMLIKIIGNSVGALGNLTL>V<LAIIVFIFAVVGMQLFGKSYKEC-VCK---887
SCN10AVFKLAKSWPTLNTLIKIIGNSVGALGNLTI>I<LAIIVFVFALVGKQLLGENYRNN-RKN---819
SCN11AVFKLAKSWPTLNTLIKIIGNSVGALGSLTV>V<LVIVIFIFSVVGMQLFGRSFNSQ-KSPKLC736
CACNA1AIFKVTKYWASLRNLVVSLLNSMKSIISLLF>L<LFLFIVVFALLGMQLFGGQFNFD-E-----644
CACNA1BIFKVTKYWSSLRNLVVSLLNSMKSIISLLF>L<LFLFIVVFALLGMQLFGGQFNFQ-D-----640
CACNA1CIFKITRYWNSLSNLVASLLNSVRSIASLLL>L<LFLFIIIFSLLGMQLFGGKFNFD-E-----681
CACNA1DIFKVTRHWTSLSNLVASLLNSMKSIASLLL>L<LFLFIIIFSLLGMQLFGGKFNFD-E-----700
CACNA1EIFKITKYWASLRNLVVSLMSSMKSIISLLF>L<LFLFIVVFALLGMQLFGGRFNFN-D-----633
CACNA1FIFKVTRHWASLSNLVASLLNSMKSIASLLL>L<LFLFIIIFSLLGMQLFGGKFNFD-Q-----686
CACNA1GVLKLVRFLPALQRQLVVLMKTMDNVATFCM>L<LMLFIFIFSILGMHLFGCKFASER------895
CACNA1HVLKLVRFLPALRRQLVVLVKTMDNVATFCT>L<LMLFIFIFSILGMHLFGCKFSLKTD-----946
CACNA1IVLKLVRFMPALRRQLVVLMKTMDNVATFCM>L<LMLFIFIFSILGMHIFGCKFSLRTD-----793
CACNA1SIFKITKYWTSLSNLVASLLNSIRSIASLLL>L<LFLFIVIFALLGMQLFGGRYDFE-D-----589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 845 for SCN5A.