Paralogue Annotation for SCN5A residue 1648

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1648
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1648

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1661SMyoclonic epilepsy of infancyHigh9 12754708, 15263074, 23086956
SCN4AF1473SParamyotonia congenitaHigh9 9300659, 18690054
CACNA1AW1684RHemiplegic migraine with cerebellar signsMedium9 11439943, 22549042
SCN1AF1661LHemiplegic migraineHigh9 24707016

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.



SCN5ASPTLFRVIRLARIGRILRLIRGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYSIFGMAN1678
SCN1ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1691
SCN2ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1681
SCN3ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1676
SCN4ASPTLFRVIRLARIGRVLRLIRGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYSIFGMSN1503
SCN7APPSLVQLILLSRIIHMLRLGKGPKVFHNLM>L<PLMLSLPALLNIILLIFLVMFIYAVFGMYN1401
SCN8ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIFSIFGMSN1672
SCN9ASPTLFRVIRLARIGRILRLVKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1654
SCN10ASPTLFRVIRLARIGRILRLIRAAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYSIFGMSS1628
SCN11APPTLFRIVRLARIGRILRLVRAARGIRTLL>F<ALMMSLPSLFNIGLLLFLIMFIYAILGMNW1518
CACNA1ANLSFLRLFRA---ARLIKLLRQGYTIRILL>W<TFVQSFKALPYVCLLIAMLFFIYAIIGMQV1713
CACNA1BNLSFLRLFRA---ARLIKLLRQGYTIRILL>W<TFVQSFKALPYVCLLIAMLFFIYAIIGMQV1621
CACNA1CSITFFRLFRV---MRLVKLLSRGEGIRTLL>W<TFIKSFQALPYVALLIVMLFFIYAVIGMQV1381
CACNA1DSITFFRLFRV---MRLVKLLSRGEGIRTLL>W<TFIKSFQALPYVALLIAMLFFIYAVIGMQM1391
CACNA1ENMSFLKLFRA---ARLIKLLRQGYTIRILL>W<TFVQSFKALPYVCLLIAMLFFIYAIIGMQV1628
CACNA1FSITFFRLFRV---MRLVKLLSKGEGIRTLL>W<TFIKSFQALPYVALLIAMIFFIYAVIGMQM1348
CACNA1GNPTIIRIMRVLRIARVLKLLKMAVGMRALL>D<TVMQALPQVGNLGLLFMLLFFIFAALGVEL1764
CACNA1HNPTIIRIMRVLRIARVLKLLKMATGMRALL>D<TVVQALPQVGNLGLLFMLLFFIYAALGVEL1770
CACNA1INPTIIRIMRVLRIARVLKLLKMATGMRALL>D<TVVQALPQVGNLGLLFMLLFFIYAALGVEL1640
CACNA1SSSAFFRLFRV---MRLIKLLSRAEGVRTLL>W<TFIKSFQALPYVALLIVMLFFIYAVIGMQM1288
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1648 for SCN5A.