Paralogue Annotation for SCN5A residue 1653

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1653
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1653

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS1666FDravet 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.



SCN5ARVIRLARIGRILRLIRGAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIYSIFGMANFAYVK1683
SCN1ARVIRLARIGRILRLIKGAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIYAIFGMSNFAYVK1696
SCN2ARVIRLARIGRILRLIKGAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIYAIFGMSNFAYVK1686
SCN3ARVIRLARIGRILRLIKGAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIYAIFGMSNFAYVK1681
SCN4ARVIRLARIGRVLRLIRGAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIYSIFGMSNFAYVK1508
SCN7AQLILLSRIIHMLRLGKGPKVFHNLMLPLML>S<LPALLNIILLIFLVMFIYAVFGMYNFAYVK1406
SCN8ARVIRLARIGRILRLIKGAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIFSIFGMSNFAYVK1677
SCN9ARVIRLARIGRILRLVKGAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIYAIFGMSNFAYVK1659
SCN10ARVIRLARIGRILRLIRAAKGIRTLLFALMM>S<LPALFNIGLLLFLVMFIYSIFGMSSFPHVR1633
SCN11ARIVRLARIGRILRLVRAARGIRTLLFALMM>S<LPSLFNIGLLLFLIMFIYAILGMNWFSKVN1523
CACNA1ARLFRA---ARLIKLLRQGYTIRILLWTFVQ>S<FKALPYVCLLIAMLFFIYAIIGMQVFGNIG1718
CACNA1BRLFRA---ARLIKLLRQGYTIRILLWTFVQ>S<FKALPYVCLLIAMLFFIYAIIGMQVFGNIA1626
CACNA1CRLFRV---MRLVKLLSRGEGIRTLLWTFIK>S<FQALPYVALLIVMLFFIYAVIGMQVFGKIA1386
CACNA1DRLFRV---MRLVKLLSRGEGIRTLLWTFIK>S<FQALPYVALLIAMLFFIYAVIGMQMFGKVA1396
CACNA1EKLFRA---ARLIKLLRQGYTIRILLWTFVQ>S<FKALPYVCLLIAMLFFIYAIIGMQVFGNIK1633
CACNA1FRLFRV---MRLVKLLSKGEGIRTLLWTFIK>S<FQALPYVALLIAMIFFIYAVIGMQMFGKVA1353
CACNA1GRIMRVLRIARVLKLLKMAVGMRALLDTVMQ>A<LPQVGNLGLLFMLLFFIFAALGVELFGDLE1769
CACNA1HRIMRVLRIARVLKLLKMATGMRALLDTVVQ>A<LPQVGNLGLLFMLLFFIYAALGVELFGRLE1775
CACNA1IRIMRVLRIARVLKLLKMATGMRALLDTVVQ>A<LPQVGNLGLLFMLLFFIYAALGVELFGKLV1645
CACNA1SRLFRV---MRLIKLLSRAEGVRTLLWTFIK>S<FQALPYVALLIVMLFFIYAVIGMQMFGKIA1293
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1653 for SCN5A.