Paralogue Annotation for SCN5A residue 1353

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1353
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1353

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1366IGeneralized epilepsy with febrile seizures plusHigh9 17507202, 25576396

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.



SCN5AVVNALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFGRCINQTEGDL-P-LNYTIVNNK1381
SCN1AVVNALLGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYHCINTTTGDR---FDIEDVNNH1393
SCN2AVVNALLGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYHCINYTTGEM---FDVSVVNNY1383
SCN3AVVNALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYHCVNMTTGNM---FDISDVNNL1381
SCN4AVVNALLGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYYCINTTTSER---FDISEVNNK1206
SCN7AVVRALIKTTLPTLNVFLVCLMIWLIFSIMG>V<DLFAGRFYECIDPTSGER---FPSSEVMNK1104
SCN8AVVNALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKYHYCFNETSEIR---FEIEDVNNK1373
SCN9AVVNALIGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYECINTTDGSR---FPASQVPNR1356
SCN10AVVDALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFWRCINYTDGEF-SLVPLSIVNNK1329
SCN11AVVNALIGAIPAILNVLLVCLIFWLVFCILG>V<YFFSGKFGKCINGTDSVI----NYTIITNK1223
CACNA1AVFDCVVNSLKNVFNILIVYMLFMFIFAVVA>V<QLFKGKFFHCTDESKEFEKDCRGKYLLYEK1426
CACNA1BVFDCVVNSLKNVLNILIVYMLFMFIFAVIA>V<QLFKGKFFYCTDESKELERDCRGQYLDYEK1332
CACNA1CVVQCVFVAIRTIGNIVIVTTLLQFMFACIG>V<QLFKGKLYTCSDSSKQTEAECKGNYITYKD1078
CACNA1DVVQCVFVAIRTIGNIMIVTTLLQFMFACIG>V<QLFKGKFYRCTDEAKSNPEECRGLFILYKD1084
CACNA1EVFDCVVTSLKNVFNILIVYKLFMFIFAVIA>V<QLFKGKFFYCTDSSKDTEKECIGNYVDHEK1338
CACNA1FVVQCVFVAIRTIGNIMIVTTLLQFMFACIG>V<QLFKGKFYTCTDEAKHTPQECKGSFLVYPD1049
CACNA1GVVETLMSSLKPIGNIVVICCAFFIIFGILG>V<QLFKGKFFVCQGED---------TRNITNK1452
CACNA1HVVETLISSLRPIGNIVLICCAFFIIFGILG>V<QLFKGKFYYCEGPD---------TRNISTK1470
CACNA1IVVETLISSLKPIGNIVLICCAFFIIFGILG>V<QLFKGKFYHCLGVD---------TRNITNR1346
CACNA1SVVQCMFVAISTIGNIVLVTTLLQFMFACIG>V<QLFKGKFFRCTDLSKMTEEECRGYYYVYKD977
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1353Mc.4057G>A Inherited ArrhythmiaBrSrs199473233SIFT: 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