Paralogue Annotation for SCN5A residue 1647

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1647
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1647

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AL1682PHemiplegic migraineHigh9 17212932
SCN1AL1660PDravet syndrome C ?High9 21248271, 23895530
SCN2AL1650PEpileptic encephalopathy, early infantileHigh9 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.



SCN5AFSPTLFRVIRLARIGRILRLIRGAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIYSIFGMA1677
SCN1AVSPTLFRVIRLARIGRILRLIKGAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIYAIFGMS1690
SCN2AVSPTLFRVIRLARIGRILRLIKGAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIYAIFGMS1680
SCN3AVSPTLFRVIRLARIGRILRLIKGAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIYAIFGMS1675
SCN4AVSPTLFRVIRLARIGRVLRLIRGAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIYSIFGMS1502
SCN7AVPPSLVQLILLSRIIHMLRLGKGPKVFHNL>M<LPLMLSLPALLNIILLIFLVMFIYAVFGMY1400
SCN8AVSPTLFRVIRLARIGRILRLIKGAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIFSIFGMS1671
SCN9AVSPTLFRVIRLARIGRILRLVKGAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIYAIFGMS1653
SCN10AFSPTLFRVIRLARIGRILRLIRAAKGIRTL>L<FALMMSLPALFNIGLLLFLVMFIYSIFGMS1627
SCN11AFPPTLFRIVRLARIGRILRLVRAARGIRTL>L<FALMMSLPSLFNIGLLLFLIMFIYAILGMN1517
CACNA1AINLSFLRLFRA---ARLIKLLRQGYTIRIL>L<WTFVQSFKALPYVCLLIAMLFFIYAIIGMQ1712
CACNA1BINLSFLRLFRA---ARLIKLLRQGYTIRIL>L<WTFVQSFKALPYVCLLIAMLFFIYAIIGMQ1620
CACNA1CISITFFRLFRV---MRLVKLLSRGEGIRTL>L<WTFIKSFQALPYVALLIVMLFFIYAVIGMQ1380
CACNA1DISITFFRLFRV---MRLVKLLSRGEGIRTL>L<WTFIKSFQALPYVALLIAMLFFIYAVIGMQ1390
CACNA1EFNMSFLKLFRA---ARLIKLLRQGYTIRIL>L<WTFVQSFKALPYVCLLIAMLFFIYAIIGMQ1627
CACNA1FISITFFRLFRV---MRLVKLLSKGEGIRTL>L<WTFIKSFQALPYVALLIAMIFFIYAVIGMQ1347
CACNA1GINPTIIRIMRVLRIARVLKLLKMAVGMRAL>L<DTVMQALPQVGNLGLLFMLLFFIFAALGVE1763
CACNA1HINPTIIRIMRVLRIARVLKLLKMATGMRAL>L<DTVVQALPQVGNLGLLFMLLFFIYAALGVE1769
CACNA1IINPTIIRIMRVLRIARVLKLLKMATGMRAL>L<DTVVQALPQVGNLGLLFMLLFFIYAALGVE1639
CACNA1SISSAFFRLFRV---MRLIKLLSRAEGVRTL>L<WTFIKSFQALPYVALLIVMLFFIYAVIGMQ1287
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1647 for SCN5A.