Paralogue Annotation for SCN5A residue 1636

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1636
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1636

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1649QHemiplegic migraineHigh9 17397047, 18621678, 24101488
SCN4AL1461PMyotoniaHigh9 22094069
SCN9AL1612PParoxysmal extreme pain disorderHigh9 25285947, 25285947

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--------KYFFSPTLFRVIRLARIGRILR>L<IRGAKGIRTLLFALMMSLPALFNIGLLLFL1666
SCN1A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1679
SCN2A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1669
SCN3A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1664
SCN4A--------KYFVSPTLFRVIRLARIGRVLR>L<IRGAKGIRTLLFALMMSLPALFNIGLLLFL1491
SCN7A--------SYLVPPSLVQLILLSRIIHMLR>L<GKGPKVFHNLMLPLMLSLPALLNIILLIFL1389
SCN8A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1660
SCN9A--------TYFVSPTLFRVIRLARIGRILR>L<VKGAKGIRTLLFALMMSLPALFNIGLLLFL1642
SCN10A-------LQSYFSPTLFRVIRLARIGRILR>L<IRAAKGIRTLLFALMMSLPALFNIGLLLFL1616
SCN11A-------EHIPFPPTLFRIVRLARIGRILR>L<VRAARGIRTLLFALMMSLPSLFNIGLLLFL1506
CACNA1A----------FINLSFLRLFRA---ARLIK>L<LRQGYTIRILLWTFVQSFKALPYVCLLIAM1701
CACNA1B--------NNFINLSFLRLFRA---ARLIK>L<LRQGYTIRILLWTFVQSFKALPYVCLLIAM1609
CACNA1CSPSMNAEENSRISITFFRLFRV---MRLVK>L<LSRGEGIRTLLWTFIKSFQALPYVALLIVM1369
CACNA1DATPGNSEESNRISITFFRLFRV---MRLVK>L<LSRGEGIRTLLWTFIKSFQALPYVALLIAM1379
CACNA1E-------NTSGFNMSFLKLFRA---ARLIK>L<LRQGYTIRILLWTFVQSFKALPYVCLLIAM1616
CACNA1F----SSEDSSRISITFFRLFRV---MRLVK>L<LSKGEGIRTLLWTFIKSFQALPYVALLIAM1336
CACNA1G-------ASLPINPTIIRIMRVLRIARVLK>L<LKMAVGMRALLDTVMQALPQVGNLGLLFML1752
CACNA1H-------AALPINPTIIRIMRVLRIARVLK>L<LKMATGMRALLDTVVQALPQVGNLGLLFML1758
CACNA1I-------AALPINPTIIRIMRVLRIARVLK>L<LKMATGMRALLDTVVQALPQVGNLGLLFML1628
CACNA1SCGNVDPDESARISSAFFRLFRV---MRLIK>L<LSRAEGVRTLLWTFIKSFQALPYVALLIVM1276
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1636 for SCN5A.