Paralogue Annotation for SCN5A residue 1333

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1333
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1333

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AS1336YOhtahara syndromeHigh9 23935176, 24814476

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.



SCN5ARTLRALRPLRALSRFEGMRVVVNALVGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKFGRC1363
SCN1ARTLRALRPLRALSRFEGMRVVVNALLGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKFYHC1376
SCN2ARTLRALRPLRALSRFEGMRVVVNALLGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKFYHC1366
SCN3ARTLRALRPLRALSRFEGMRVVVNALVGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKFYHC1364
SCN4ARTLRALRPLRALSRFEGMRVVVNALLGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKFYYC1189
SCN7AISMKFLRPLRVLSQFERMKVVVRALIKTTL>P<TLNVFLVCLMIWLIFSIMGVDLFAGRFYEC1087
SCN8ARTLRALRPLRALSRFEGMRVVVNALVGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKYHYC1356
SCN9ARTLRALRPLRALSRFEGMRVVVNALIGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKFYEC1339
SCN10ARTLRALRPLRALSRFEGMRVVVDALVGAIP>S<IMNVLLVCLIFWLIFSIMGVNLFAGKFWRC1310
SCN11ARTLRALRPLRALSQFEGMKVVVNALIGAIP>A<ILNVLLVCLIFWLVFCILGVYFFSGKFGKC1207
CACNA1ARVLRVLRPLKTIKRLPKLKAVFDCVVNSLK>N<VFNILIVYMLFMFIFAVVAVQLFKGKFFHC1406
CACNA1BRVLRVLRPLKTIKRLPKLKAVFDCVVNSLK>N<VLNILIVYMLFMFIFAVIAVQLFKGKFFYC1312
CACNA1CRVLRVLRPLRAINRAKGLKHVVQCVFVAIR>T<IGNIVIVTTLLQFMFACIGVQLFKGKLYTC1058
CACNA1DRVLRVLRPLRAINRAKGLKHVVQCVFVAIR>T<IGNIMIVTTLLQFMFACIGVQLFKGKFYRC1064
CACNA1ERVLRVLRPLKTIKRLPKLKAVFDCVVTSLK>N<VFNILIVYKLFMFIFAVIAVQLFKGKFFYC1318
CACNA1FRVLRVLRPLRAINRAKGLKHVVQCVFVAIR>T<IGNIMIVTTLLQFMFACIGVQLFKGKFYTC1029
CACNA1GRLLRTLRPLRVISRAQGLKLVVETLMSSLK>P<IGNIVVICCAFFIIFGILGVQLFKGKFFVC1441
CACNA1HRLLRTLRPLRVISRAPGLKLVVETLISSLR>P<IGNIVLICCAFFIIFGILGVQLFKGKFYYC1459
CACNA1IRLLRTLRPLRVISRAPGLKLVVETLISSLK>P<IGNIVLICCAFFIIFGILGVQLFKGKFYHC1335
CACNA1SRVLRVLRPLRAINRAKGLKHVVQCMFVAIS>T<IGNIVLVTTLLQFMFACIGVQLFKGKFFRC957
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1333Yc.3998C>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724
Inherited ArrhythmiaLQTS Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome. FEBS Lett. 2009 583(5):890-6. 19302788