Paralogue Annotation for SCN5A residue 1500

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1500
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1500

No paralogue variants have been mapped to residue 1500 for SCN5A.



SCN5AKLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK1516
SCN1AKFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPGNK1529
SCN2AKFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPANK1519
SCN3AKFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPANK1514
SCN4AKLGGKDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPQNK1341
SCN7AKLGGSNIFITVKQRKQY------RRL---K>K<-L----M-YEDS--------QRPVPRPLNK1239
SCN8AKFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK1510
SCN9AKLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPGNK1492
SCN10AKLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK1464
SCN11AKLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK1354
CACNA1AKM----MEEYSLEKNER------ACI---D>F<AI------SAKP-------LTRHMPQNKQS1554
CACNA1BKV----MSECSLEKNER------ACI---D>F<AI------SAKP-------LTRYMPQNRQS1460
CACNA1CQE----YKNCELDKNQR------QCV---E>Y<AL------KARP-------LRRYIPK--NQ1207
CACNA1DKE----YKNCELDKNQR------QCV---E>Y<AL------KARP-------LRRYIPK--NP1213
CACNA1EKM----MEECSLEKNER------ACI---D>F<AI------SAKP-------LTRYMPQNRHT1466
CACNA1FQE----YQNCELDKNQR------QCV---E>Y<AL------KAQP-------LRRYIPK--NP1178
CACNA1GHQEEEEARRREEKRLRRLEKKRRNLML--D>D<VI-----ASGSSASAASEAQCKPYYSDYSR1599
CACNA1HHQEAEEARRREEK----------RLRRLER>R<RRSTFPSPEAQ---------RRPYYADYSP1605
CACNA1IHQEAEEARRREEK----------RLRRLEK>K<RR------KAQ---------RLPYYATYCH1475
CACNA1STE----YKNCELDKNQR------QCV---Q>Y<AL------KARP-------LRCYIPK--NP1106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1500Nc.4500G>T Inherited ArrhythmiaLQTSrs199473265SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. Am J Med Genet. 1999 86(5):470-6. 10508990
Inherited ArrhythmiaLQTS Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol. 2004 43(9):1625-9. 15120823