Paralogue Annotation for SCN5A residue 1363

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1363
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1363

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1376RIntractable epilepsyHigh9 23195492

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.



SCN5ASIMNVLLVCLIFWLIFSIMGVNLFAGKFGR>C<INQTEGDL-P-LNYTIVNNKSQCESLNLTG1391
SCN1ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYH>C<INTTTGDR---FDIEDVNNHTDCLKLIERN1403
SCN2ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYH>C<INYTTGEM---FDVSVVNNYSECKALIESN1393
SCN3ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYH>C<VNMTTGNM---FDISDVNNLSDCQALGK--1389
SCN4ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYY>C<INTTTSER---FDISEVNNKSECESLMHTG1216
SCN7APTLNVFLVCLMIWLIFSIMGVDLFAGRFYE>C<IDPTSGER---FPSSEVMNKSRCESLLFNE1114
SCN8ASIMNVLLVCLIFWLIFSIMGVNLFAGKYHY>C<FNETSEIR---FEIEDVNNKTECEKLMEGN1383
SCN9ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYE>C<INTTDGSR---FPASQVPNRSECFALMNVS1366
SCN10ASIMNVLLVCLIFWLIFSIMGVNLFAGKFWR>C<INYTDGEF-SLVPLSIVNNKSDCKIQNSTG1339
SCN11AAILNVLLVCLIFWLVFCILGVYFFSGKFGK>C<INGTDSVI----NYTIITNKSQCESGN---1230
CACNA1ANVFNILIVYMLFMFIFAVVAVQLFKGKFFH>C<TDESKEFEKDCRGKYLLYEKNEVK----AR1432
CACNA1BNVLNILIVYMLFMFIFAVIAVQLFKGKFFY>C<TDESKELERDCRGQYLDYEKEEVE----AQ1338
CACNA1CTIGNIVIVTTLLQFMFACIGVQLFKGKLYT>C<SDSSKQTEAECKGNYITYKDGEVDHP-IIQ1087
CACNA1DTIGNIMIVTTLLQFMFACIGVQLFKGKFYR>C<TDEAKSNPEECRGLFILYKDGDVDSP-VVR1093
CACNA1ENVFNILIVYKLFMFIFAVIAVQLFKGKFFY>C<TDSSKDTEKECIGNYVDHEKNKME----VK1344
CACNA1FTIGNIMIVTTLLQFMFACIGVQLFKGKFYT>C<TDEAKHTPQECKGSFLVYPDGDVSRP-LVR1058
CACNA1GPIGNIVVICCAFFIIFGILGVQLFKGKFFV>C<QGED---------TRNITNKSDCA----EA1458
CACNA1HPIGNIVLICCAFFIIFGILGVQLFKGKFYY>C<EGPD---------TRNISTKAQCR----AA1476
CACNA1IPIGNIVLICCAFFIIFGILGVQLFKGKFYH>C<LGVD---------TRNITNRSDCM----AA1352
CACNA1STIGNIVLVTTLLQFMFACIGVQLFKGKFFR>C<TDLSKMTEEECRGYYYVYKDGDPMQI-ELR986
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C1363Yc.4088G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Diagnostic value of flecainide testing in unmasking SCN5A-related Brugada syndrome. J Cardiovasc Electrophysiol. 2006 17(8):857-64. 16764707
Inherited 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