Paralogue Annotation for SCN5A residue 1323

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1323
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1323

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AV1299FParoxysmal extreme pain disorderHigh9 17145499, 18599537, 21115638
SCN2AV1326DMigrating focal seizures of infancyHigh9 23988467
SCN2AV1326LOhtahara syndromeHigh9 23935176
SCN4AV1149LEpisodic paralyses and myotonic dischargesHigh9 25724373

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.



SCN5AFAEMGPIKSLRTLRALRPLRALSRFEGMRV>V<VNALVGAIPSIMNVLLVCLIFWLIFSIMGV1353
SCN1AYSELGAIKSLRTLRALRPLRALSRFEGMRV>V<VNALLGAIPSIMNVLLVCLIFWLIFSIMGV1366
SCN2AYSELGAIKSLRTLRALRPLRALSRFEGMRV>V<VNALLGAIPSIMNVLLVCLIFWLIFSIMGV1356
SCN3AYSELGAIKSLRTLRALRPLRALSRFEGMRV>V<VNALVGAIPSIMNVLLVCLIFWLIFSIMGV1354
SCN4AYSELGPIKSLRTLRALRPLRALSRFEGMRV>V<VNALLGAIPSIMNVLLVCLIFWLIFSIMGV1179
SCN7A--E---LKPLISMKFLRPLRVLSQFERMKV>V<VRALIKTTLPTLNVFLVCLMIWLIFSIMGV1077
SCN8AYSELGAIKSLRTLRALRPLRALSRFEGMRV>V<VNALVGAIPSIMNVLLVCLIFWLIFSIMGV1346
SCN9AYSDLGPIKSLRTLRALRPLRALSRFEGMRV>V<VNALIGAIPSIMNVLLVCLIFWLIFSIMGV1329
SCN10AYSEVAPIKALRTLRALRPLRALSRFEGMRV>V<VDALVGAIPSIMNVLLVCLIFWLIFSIMGV1300
SCN11A---LMELKSFRTLRALRPLRALSQFEGMKV>V<VNALIGAIPAILNVLLVCLIFWLVFCILGV1197
CACNA1AGKDINTIKSLRVLRVLRPLKTIKRLPKLKA>V<FDCVVNSLKNVFNILIVYMLFMFIFAVVAV1396
CACNA1BGKDINTIKSLRVLRVLRPLKTIKRLPKLKA>V<FDCVVNSLKNVLNILIVYMLFMFIFAVIAV1302
CACNA1CSSAINVVKILRVLRVLRPLRAINRAKGLKH>V<VQCVFVAIRTIGNIVIVTTLLQFMFACIGV1048
CACNA1DSSAISVVKILRVLRVLRPLRAINRAKGLKH>V<VQCVFVAIRTIGNIMIVTTLLQFMFACIGV1054
CACNA1EGRDIKTIKSLRVLRVLRPLKTIKRLPKLKA>V<FDCVVTSLKNVFNILIVYKLFMFIFAVIAV1308
CACNA1FSSAISVVKILRVLRVLRPLRAINRAKGLKH>V<VQCVFVAIRTIGNIMIVTTLLQFMFACIGV1019
CACNA1GTKILGMLRVLRLLRTLRPLRVISRAQGLKL>V<VETLMSSLKPIGNIVVICCAFFIIFGILGV1431
CACNA1HAKILGVLRVLRLLRTLRPLRVISRAPGLKL>V<VETLISSLRPIGNIVLICCAFFIIFGILGV1449
CACNA1IAKILGVLRVLRLLRTLRPLRVISRAPGLKL>V<VETLISSLKPIGNIVLICCAFFIIFGILGV1325
CACNA1SSSAISVVKILRVLRVLRPLRAINRAKGLKH>V<VQCMFVAISTIGNIVLVTTLLQFMFACIGV947
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1323Gc.3968T>G 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 Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861