Paralogue Annotation for SCN5A residue 846

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 846
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 846

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AL621REpisodic ataxiaHigh9 20156848
SCN1AL897SDravet syndromeHigh9 26096185

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.



SCN5AFKLAKSWPTLNTLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKNYSEL-RDS----871
SCN1AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKDC-VCK----922
SCN2AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----913
SCN3AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----914
SCN4AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----732
SCN7AFKLGKYWPTFQILMWSLSNSWVALKDLVLL>L<FTFIFFSAAFGMKLFGKNYEEF-VCH----659
SCN8AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----907
SCN9AFKLAKSWPTLNMLIKIIGNSVGALGNLTLV>L<AIIVFIFAVVGMQLFGKSYKEC-VCK----887
SCN10AFKLAKSWPTLNTLIKIIGNSVGALGNLTII>L<AIIVFVFALVGKQLLGENYRNN-RKN----819
SCN11AFKLAKSWPTLNTLIKIIGNSVGALGSLTVV>L<VIVIFIFSVVGMQLFGRSFNSQ-KSPKLCN737
CACNA1AFKVTKYWASLRNLVVSLLNSMKSIISLLFL>L<FLFIVVFALLGMQLFGGQFNFD-E------644
CACNA1BFKVTKYWSSLRNLVVSLLNSMKSIISLLFL>L<FLFIVVFALLGMQLFGGQFNFQ-D------640
CACNA1CFKITRYWNSLSNLVASLLNSVRSIASLLLL>L<FLFIIIFSLLGMQLFGGKFNFD-E------681
CACNA1DFKVTRHWTSLSNLVASLLNSMKSIASLLLL>L<FLFIIIFSLLGMQLFGGKFNFD-E------700
CACNA1EFKITKYWASLRNLVVSLMSSMKSIISLLFL>L<FLFIVVFALLGMQLFGGRFNFN-D------633
CACNA1FFKVTRHWASLSNLVASLLNSMKSIASLLLL>L<FLFIIIFSLLGMQLFGGKFNFD-Q------686
CACNA1GLKLVRFLPALQRQLVVLMKTMDNVATFCML>L<MLFIFIFSILGMHLFGCKFASER-------895
CACNA1HLKLVRFLPALRRQLVVLVKTMDNVATFCTL>L<MLFIFIFSILGMHLFGCKFSLKTD------946
CACNA1ILKLVRFMPALRRQLVVLMKTMDNVATFCML>L<MLFIFIFSILGMHIFGCKFSLRTD------793
CACNA1SFKITKYWTSLSNLVASLLNSIRSIASLLLL>L<FLFIVIFALLGMQLFGGRYDFE-D------589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L846Rc.2537T>G Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. Circ Arrhythm Electrophysiol. 2011 4(6):874-81. 22028457