Paralogue Annotation for SCN5A residue 1360

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1360
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1360

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AF1404CEpisodic ataxia 2High9 11723274, 25109669

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.



SCN5AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<GRCINQTEGDL-P-LNYTIVNNKSQCESLN1388
SCN1AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YHCINTTTGDR---FDIEDVNNHTDCLKLI1400
SCN2AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YHCINYTTGEM---FDVSVVNNYSECKALI1390
SCN3AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YHCVNMTTGNM---FDISDVNNLSDCQALG1388
SCN4AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YYCINTTTSER---FDISEVNNKSECESLM1213
SCN7ATTLPTLNVFLVCLMIWLIFSIMGVDLFAGR>F<YECIDPTSGER---FPSSEVMNKSRCESLL1111
SCN8AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>Y<HYCFNETSEIR---FEIEDVNNKTECEKLM1380
SCN9AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YECINTTDGSR---FPASQVPNRSECFALM1363
SCN10AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<WRCINYTDGEF-SLVPLSIVNNKSDCKIQN1336
SCN11AAIPAILNVLLVCLIFWLVFCILGVYFFSGK>F<GKCINGTDSVI----NYTIITNKSQCESGN1230
CACNA1ASLKNVFNILIVYMLFMFIFAVVAVQLFKGK>F<FHCTDESKEFEKDCRGKYLLYEKNEVK---1430
CACNA1BSLKNVLNILIVYMLFMFIFAVIAVQLFKGK>F<FYCTDESKELERDCRGQYLDYEKEEVE---1336
CACNA1CAIRTIGNIVIVTTLLQFMFACIGVQLFKGK>L<YTCSDSSKQTEAECKGNYITYKDGEVDHP-1084
CACNA1DAIRTIGNIMIVTTLLQFMFACIGVQLFKGK>F<YRCTDEAKSNPEECRGLFILYKDGDVDSP-1090
CACNA1ESLKNVFNILIVYKLFMFIFAVIAVQLFKGK>F<FYCTDSSKDTEKECIGNYVDHEKNKME---1342
CACNA1FAIRTIGNIMIVTTLLQFMFACIGVQLFKGK>F<YTCTDEAKHTPQECKGSFLVYPDGDVSRP-1055
CACNA1GSLKPIGNIVVICCAFFIIFGILGVQLFKGK>F<FVCQGED---------TRNITNKSDCA---1456
CACNA1HSLRPIGNIVLICCAFFIIFGILGVQLFKGK>F<YYCEGPD---------TRNISTKAQCR---1474
CACNA1ISLKPIGNIVLICCAFFIIFGILGVQLFKGK>F<YHCLGVD---------TRNITNRSDCM---1350
CACNA1SAISTIGNIVLVTTLLQFMFACIGVQLFKGK>F<FRCTDLSKMTEEECRGYYYVYKDGDPMQI-983
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1360Cc.4079T>G Inherited ArrhythmiaBrSrs199473236SIFT: 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