Paralogue Annotation for SCN5A residue 1654

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1654
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1654

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1667PDravet syndrome C ?High9 21248271, 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.



SCN5AVIRLARIGRILRLIRGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYSIFGMANFAYVKW1684
SCN1AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKR1697
SCN2AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKR1687
SCN3AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKK1682
SCN4AVIRLARIGRVLRLIRGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYSIFGMSNFAYVKK1509
SCN7ALILLSRIIHMLRLGKGPKVFHNLMLPLMLS>L<PALLNIILLIFLVMFIYAVFGMYNFAYVKK1407
SCN8AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIFSIFGMSNFAYVKH1678
SCN9AVIRLARIGRILRLVKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKK1660
SCN10AVIRLARIGRILRLIRAAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYSIFGMSSFPHVRW1634
SCN11AIVRLARIGRILRLVRAARGIRTLLFALMMS>L<PSLFNIGLLLFLIMFIYAILGMNWFSKVNP1524
CACNA1ALFRA---ARLIKLLRQGYTIRILLWTFVQS>F<KALPYVCLLIAMLFFIYAIIGMQVFGNIGI1719
CACNA1BLFRA---ARLIKLLRQGYTIRILLWTFVQS>F<KALPYVCLLIAMLFFIYAIIGMQVFGNIAL1627
CACNA1CLFRV---MRLVKLLSRGEGIRTLLWTFIKS>F<QALPYVALLIVMLFFIYAVIGMQVFGKIAL1387
CACNA1DLFRV---MRLVKLLSRGEGIRTLLWTFIKS>F<QALPYVALLIAMLFFIYAVIGMQMFGKVAM1397
CACNA1ELFRA---ARLIKLLRQGYTIRILLWTFVQS>F<KALPYVCLLIAMLFFIYAIIGMQVFGNIKL1634
CACNA1FLFRV---MRLVKLLSKGEGIRTLLWTFIKS>F<QALPYVALLIAMIFFIYAVIGMQMFGKVAL1354
CACNA1GIMRVLRIARVLKLLKMAVGMRALLDTVMQA>L<PQVGNLGLLFMLLFFIFAALGVELFGDLEC1770
CACNA1HIMRVLRIARVLKLLKMATGMRALLDTVVQA>L<PQVGNLGLLFMLLFFIYAALGVELFGRLEC1776
CACNA1IIMRVLRIARVLKLLKMATGMRALLDTVVQA>L<PQVGNLGLLFMLLFFIYAALGVELFGKLVC1646
CACNA1SLFRV---MRLIKLLSRAEGVRTLLWTFIKS>F<QALPYVALLIVMLFFIYAVIGMQMFGKIAL1294
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1654 for SCN5A.