Paralogue Annotation for SCN5A residue 1345

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1345
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1345

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW1358SMyoclonic epilepsy of infancyHigh9 18413471
SCN1AW1358RDravet syndrome C ?High9 21248271
SCN1AW1358XDravet syndrome CHigh9 21248271, 25525159

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.



SCN5ASRFEGMRVVVNALVGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKFGRCINQTEGDL-P-L1373
SCN1ASRFEGMRVVVNALLGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKFYHCINTTTGDR---F1385
SCN2ASRFEGMRVVVNALLGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKFYHCINYTTGEM---F1375
SCN3ASRFEGMRVVVNALVGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKFYHCVNMTTGNM---F1373
SCN4ASRFEGMRVVVNALLGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKFYYCINTTTSER---F1198
SCN7ASQFERMKVVVRALIKTTLPTLNVFLVCLMI>W<LIFSIMGVDLFAGRFYECIDPTSGER---F1096
SCN8ASRFEGMRVVVNALVGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKYHYCFNETSEIR---F1365
SCN9ASRFEGMRVVVNALIGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKFYECINTTDGSR---F1348
SCN10ASRFEGMRVVVDALVGAIPSIMNVLLVCLIF>W<LIFSIMGVNLFAGKFWRCINYTDGEF-SLV1321
SCN11ASQFEGMKVVVNALIGAIPAILNVLLVCLIF>W<LVFCILGVYFFSGKFGKCINGTDSVI----1215
CACNA1AKRLPKLKAVFDCVVNSLKNVFNILIVYMLF>M<FIFAVVAVQLFKGKFFHCTDESKEFEKDCR1418
CACNA1BKRLPKLKAVFDCVVNSLKNVLNILIVYMLF>M<FIFAVIAVQLFKGKFFYCTDESKELERDCR1324
CACNA1CNRAKGLKHVVQCVFVAIRTIGNIVIVTTLL>Q<FMFACIGVQLFKGKLYTCSDSSKQTEAECK1070
CACNA1DNRAKGLKHVVQCVFVAIRTIGNIMIVTTLL>Q<FMFACIGVQLFKGKFYRCTDEAKSNPEECR1076
CACNA1EKRLPKLKAVFDCVVTSLKNVFNILIVYKLF>M<FIFAVIAVQLFKGKFFYCTDSSKDTEKECI1330
CACNA1FNRAKGLKHVVQCVFVAIRTIGNIMIVTTLL>Q<FMFACIGVQLFKGKFYTCTDEAKHTPQECK1041
CACNA1GSRAQGLKLVVETLMSSLKPIGNIVVICCAF>F<IIFGILGVQLFKGKFFVCQGED--------1445
CACNA1HSRAPGLKLVVETLISSLRPIGNIVLICCAF>F<IIFGILGVQLFKGKFYYCEGPD--------1463
CACNA1ISRAPGLKLVVETLISSLKPIGNIVLICCAF>F<IIFGILGVQLFKGKFYHCLGVD--------1339
CACNA1SNRAKGLKHVVQCMFVAISTIGNIVLVTTLL>Q<FMFACIGVQLFKGKFFRCTDLSKMTEEECR969
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W1345Cc.4035G>T Inherited ArrhythmiaBrSrs199473606SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Childhood brugada syndrome in two korean families. Korean Circ J. 2010 40(3):143-7. 20339501