Paralogue Annotation for SCN5A residue 1358

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1358
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1358

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1371VDravet syndromeHigh9 24656210

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.



SCN5AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFGRCINQTEGDL-P-LNYTIVNNKSQCES1386
SCN1ALGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYHCINTTTGDR---FDIEDVNNHTDCLK1398
SCN2ALGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYHCINYTTGEM---FDVSVVNNYSECKA1388
SCN3AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYHCVNMTTGNM---FDISDVNNLSDCQA1386
SCN4ALGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYYCINTTTSER---FDISEVNNKSECES1211
SCN7AIKTTLPTLNVFLVCLMIWLIFSIMGVDLFA>G<RFYECIDPTSGER---FPSSEVMNKSRCES1109
SCN8AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KYHYCFNETSEIR---FEIEDVNNKTECEK1378
SCN9AIGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYECINTTDGSR---FPASQVPNRSECFA1361
SCN10AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFWRCINYTDGEF-SLVPLSIVNNKSDCKI1334
SCN11AIGAIPAILNVLLVCLIFWLVFCILGVYFFS>G<KFGKCINGTDSVI----NYTIITNKSQCES1228
CACNA1AVNSLKNVFNILIVYMLFMFIFAVVAVQLFK>G<KFFHCTDESKEFEKDCRGKYLLYEKNEVK-1430
CACNA1BVNSLKNVLNILIVYMLFMFIFAVIAVQLFK>G<KFFYCTDESKELERDCRGQYLDYEKEEVE-1336
CACNA1CFVAIRTIGNIVIVTTLLQFMFACIGVQLFK>G<KLYTCSDSSKQTEAECKGNYITYKDGEVDH1083
CACNA1DFVAIRTIGNIMIVTTLLQFMFACIGVQLFK>G<KFYRCTDEAKSNPEECRGLFILYKDGDVDS1089
CACNA1EVTSLKNVFNILIVYKLFMFIFAVIAVQLFK>G<KFFYCTDSSKDTEKECIGNYVDHEKNKME-1342
CACNA1FFVAIRTIGNIMIVTTLLQFMFACIGVQLFK>G<KFYTCTDEAKHTPQECKGSFLVYPDGDVSR1054
CACNA1GMSSLKPIGNIVVICCAFFIIFGILGVQLFK>G<KFFVCQGED---------TRNITNKSDCA-1456
CACNA1HISSLRPIGNIVLICCAFFIIFGILGVQLFK>G<KFYYCEGPD---------TRNISTKAQCR-1474
CACNA1IISSLKPIGNIVLICCAFFIIFGILGVQLFK>G<KFYHCLGVD---------TRNITNRSDCM-1350
CACNA1SFVAISTIGNIVLVTTLLQFMFACIGVQLFK>G<KFFRCTDLSKMTEEECRGYYYVYKDGDPMQ982
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1358Wc.4072G>T Inherited ArrhythmiaBrSrs199473234SIFT: 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