Paralogue Annotation for SCN5A residue 1657

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1657
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1657

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AL1660WEncephalopathy, recurrentHigh9 25457084

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.



SCN5ALARIGRILRLIRGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYSIFGMANFAYVKW---1684
SCN1ALARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKR---1697
SCN2ALARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKR---1687
SCN3ALARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKK---1682
SCN4ALARIGRVLRLIRGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYSIFGMSNFAYVKK---1509
SCN7ALSRIIHMLRLGKGPKVFHNLMLPLMLSLPA>L<LNIILLIFLVMFIYAVFGMYNFAYVKK---1407
SCN8ALARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIFSIFGMSNFAYVKH---1678
SCN9ALARIGRILRLVKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKK---1660
SCN10ALARIGRILRLIRAAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYSIFGMSSFPHVRW---1634
SCN11ALARIGRILRLVRAARGIRTLLFALMMSLPS>L<FNIGLLLFLIMFIYAILGMNWFSKVNP---1524
CACNA1AA---ARLIKLLRQGYTIRILLWTFVQSFKA>L<PYVCLLIAMLFFIYAIIGMQVFGNIGIDVE1722
CACNA1BA---ARLIKLLRQGYTIRILLWTFVQSFKA>L<PYVCLLIAMLFFIYAIIGMQVFGNIALDD-1629
CACNA1CV---MRLVKLLSRGEGIRTLLWTFIKSFQA>L<PYVALLIVMLFFIYAVIGMQVFGKIALND-1389
CACNA1DV---MRLVKLLSRGEGIRTLLWTFIKSFQA>L<PYVALLIAMLFFIYAVIGMQMFGKVAMRD-1399
CACNA1EA---ARLIKLLRQGYTIRILLWTFVQSFKA>L<PYVCLLIAMLFFIYAIIGMQVFGNIKLDE-1636
CACNA1FV---MRLVKLLSKGEGIRTLLWTFIKSFQA>L<PYVALLIAMIFFIYAVIGMQMFGKVALQD-1356
CACNA1GVLRIARVLKLLKMAVGMRALLDTVMQALPQ>V<GNLGLLFMLLFFIFAALGVELFGDLECDET1773
CACNA1HVLRIARVLKLLKMATGMRALLDTVVQALPQ>V<GNLGLLFMLLFFIYAALGVELFGRLECSED1779
CACNA1IVLRIARVLKLLKMATGMRALLDTVVQALPQ>V<GNLGLLFMLLFFIYAALGVELFGKLVCNDE1649
CACNA1SV---MRLIKLLSRAEGVRTLLWTFIKSFQA>L<PYVALLIVMLFFIYAVIGMQMFGKIALVD-1296
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1657 for SCN5A.