Paralogue Annotation for SCN5A residue 1643

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1643
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1643

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1656MGeneralized epilepsy with febrile seizures plusHigh9 11254444, 14672992, 23945787
SCN1AI1656SDravet syndromeHigh9 27236449

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.



SCN5A-KYFFSPTLFRVIRLARIGRILRLIRGAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIYSI1673
SCN1A-KYFVSPTLFRVIRLARIGRILRLIKGAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIYAI1686
SCN2A-KYFVSPTLFRVIRLARIGRILRLIKGAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIYAI1676
SCN3A-KYFVSPTLFRVIRLARIGRILRLIKGAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIYAI1671
SCN4A-KYFVSPTLFRVIRLARIGRVLRLIRGAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIYSI1498
SCN7A-SYLVPPSLVQLILLSRIIHMLRLGKGPKV>F<HNLMLPLMLSLPALLNIILLIFLVMFIYAV1396
SCN8A-KYFVSPTLFRVIRLARIGRILRLIKGAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIFSI1667
SCN9A-TYFVSPTLFRVIRLARIGRILRLVKGAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIYAI1649
SCN10ALQSYFSPTLFRVIRLARIGRILRLIRAAKG>I<RTLLFALMMSLPALFNIGLLLFLVMFIYSI1623
SCN11AEHIPFPPTLFRIVRLARIGRILRLVRAARG>I<RTLLFALMMSLPSLFNIGLLLFLIMFIYAI1513
CACNA1A---FINLSFLRLFRA---ARLIKLLRQGYT>I<RILLWTFVQSFKALPYVCLLIAMLFFIYAI1708
CACNA1B-NNFINLSFLRLFRA---ARLIKLLRQGYT>I<RILLWTFVQSFKALPYVCLLIAMLFFIYAI1616
CACNA1CENSRISITFFRLFRV---MRLVKLLSRGEG>I<RTLLWTFIKSFQALPYVALLIVMLFFIYAV1376
CACNA1DESNRISITFFRLFRV---MRLVKLLSRGEG>I<RTLLWTFIKSFQALPYVALLIAMLFFIYAV1386
CACNA1ENTSGFNMSFLKLFRA---ARLIKLLRQGYT>I<RILLWTFVQSFKALPYVCLLIAMLFFIYAI1623
CACNA1FDSSRISITFFRLFRV---MRLVKLLSKGEG>I<RTLLWTFIKSFQALPYVALLIAMIFFIYAV1343
CACNA1GASLPINPTIIRIMRVLRIARVLKLLKMAVG>M<RALLDTVMQALPQVGNLGLLFMLLFFIFAA1759
CACNA1HAALPINPTIIRIMRVLRIARVLKLLKMATG>M<RALLDTVVQALPQVGNLGLLFMLLFFIYAA1765
CACNA1IAALPINPTIIRIMRVLRIARVLKLLKMATG>M<RALLDTVVQALPQVGNLGLLFMLLFFIYAA1635
CACNA1SESARISSAFFRLFRV---MRLIKLLSRAEG>V<RTLLWTFIKSFQALPYVALLIVMLFFIYAV1283
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ile1643Leuc.4927A>C UnknownSIFT:
Polyphen: