No paralogue variants have been mapped to residue 1500 for SCN5A.
SCN5A | KLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK | 1516 |
SCN1A | KFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPGNK | 1529 |
SCN2A | KFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPANK | 1519 |
SCN3A | KFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPANK | 1514 |
SCN4A | KLGGKDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPQNK | 1341 |
SCN7A | KLGGSNIFITVKQRKQY------RRL---K>K<-L----M-YEDS--------QRPVPRPLNK | 1239 |
SCN8A | KFGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK | 1510 |
SCN9A | KLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPGNK | 1492 |
SCN10A | KLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK | 1464 |
SCN11A | KLGGQDIFMTEEQKKYY------NAM---K>K<-L----G-SKKP--------QKPIPRPLNK | 1354 |
CACNA1A | KM----MEEYSLEKNER------ACI---D>F<AI------SAKP-------LTRHMPQNKQS | 1554 |
CACNA1B | KV----MSECSLEKNER------ACI---D>F<AI------SAKP-------LTRYMPQNRQS | 1460 |
CACNA1C | QE----YKNCELDKNQR------QCV---E>Y<AL------KARP-------LRRYIPK--NQ | 1207 |
CACNA1D | KE----YKNCELDKNQR------QCV---E>Y<AL------KARP-------LRRYIPK--NP | 1213 |
CACNA1E | KM----MEECSLEKNER------ACI---D>F<AI------SAKP-------LTRYMPQNRHT | 1466 |
CACNA1F | QE----YQNCELDKNQR------QCV---E>Y<AL------KAQP-------LRRYIPK--NP | 1178 |
CACNA1G | HQEEEEARRREEKRLRRLEKKRRNLML--D>D<VI-----ASGSSASAASEAQCKPYYSDYSR | 1599 |
CACNA1H | HQEAEEARRREEK----------RLRRLER>R<RRSTFPSPEAQ---------RRPYYADYSP | 1605 |
CACNA1I | HQEAEEARRREEK----------RLRRLEK>K<RR------KAQ---------RLPYYATYCH | 1475 |
CACNA1S | TE----YKNCELDKNQR------QCV---Q>Y<AL------KARP-------LRCYIPK--NP | 1106 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1500N | c.4500G>T | Inherited Arrhythmia | LQTS | rs199473265 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | 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 Arrhythmia | LQTS | Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol. 2004 43(9):1625-9. 15120823 |