Paralogue Annotation for SCN5A residue 1629

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1629
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1629

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR1642SMyoclonic epilepsy of infancyHigh4 23195492
CACNA1GR1715HCerebellar ataxia, autosomal dominantHigh4 26456284, 26715324
SCN1AR1642MDravet syndromeHigh4 25459968
SCN4AR1454WCongenital myasthenic syndrome with periodic paralHigh4 26659129

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---------------KYFFSPTLFRVIRLA>R<IGRILRLIRGAKGIRTLLFALMMSLPALFN1659
SCN1A---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN1672
SCN2A---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN1662
SCN3A---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN1657
SCN4A---------------KYFVSPTLFRVIRLA>R<IGRVLRLIRGAKGIRTLLFALMMSLPALFN1484
SCN7A---------------SYLVPPSLVQLILLS>R<IIHMLRLGKGPKVFHNLMLPLMLSLPALLN1382
SCN8A---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN1653
SCN9A---------------TYFVSPTLFRVIRLA>R<IGRILRLVKGAKGIRTLLFALMMSLPALFN1635
SCN10A--------------LQSYFSPTLFRVIRLA>R<IGRILRLIRAAKGIRTLLFALMMSLPALFN1609
SCN11A--------------EHIPFPPTLFRIVRLA>R<IGRILRLVRAARGIRTLLFALMMSLPSLFN1499
CACNA1A-----------------FINLSFLRLFRA->-<-ARLIKLLRQGYTIRILLWTFVQSFKALPY1694
CACNA1B---------------NNFINLSFLRLFRA->-<-ARLIKLLRQGYTIRILLWTFVQSFKALPY1602
CACNA1CTQ----CSPSMNAEENSRISITFFRLFRV->-<-MRLVKLLSRGEGIRTLLWTFIKSFQALPY1362
CACNA1DENVPVPTATPGNSEESNRISITFFRLFRV->-<-MRLVKLLSRGEGIRTLLWTFIKSFQALPY1372
CACNA1E--------------NTSGFNMSFLKLFRA->-<-ARLIKLLRQGYTIRILLWTFVQSFKALPY1609
CACNA1FLG----E----SSEDSSRISITFFRLFRV->-<-MRLVKLLSKGEGIRTLLWTFIKSFQALPY1329
CACNA1G--------------ASLPINPTIIRIMRVL>R<IARVLKLLKMAVGMRALLDTVMQALPQVGN1745
CACNA1H--------------AALPINPTIIRIMRVL>R<IARVLKLLKMATGMRALLDTVVQALPQVGN1751
CACNA1I--------------AALPINPTIIRIMRVL>R<IARVLKLLKMATGMRALLDTVVQALPQVGN1621
CACNA1SLYCLGGGCGNVDPDESARISSAFFRLFRV->-<-MRLIKLLSRAEGVRTLLWTFIKSFQALPY1269
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1629Gc.4885C>G Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):531-9. 19843921
p.R1629Qc.4886G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
Inherited ArrhythmiaBrS Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. PLoS One. 2013 8(10):e78382. doi: 10.1371/journal.pone.0078382. 24167619