No paralogue variants have been mapped to residue 1477 for SCN5A.
SCN5A | YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM--- | 1498 |
SCN1A | YLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM--- | 1511 |
SCN2A | YLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM--- | 1501 |
SCN3A | YLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM--- | 1496 |
SCN4A | YLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGKDIFMTEEQKKYY------NAM--- | 1323 |
SCN7A | YCYFINFIIFGVFLPLSMLITVIIDNFNKH>K<IKLGGSNIFITVKQRKQY------RRL--- | 1221 |
SCN8A | YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM--- | 1492 |
SCN9A | YIYFVVFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM--- | 1474 |
SCN10A | YLYFVIFIIFGGFFTLNLFVGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM--- | 1446 |
SCN11A | YIYFVVFIIFGSFFTLNLFIGVIIDNFNQQ>Q<KKLGGQDIFMTEEQKKYY------NAM--- | 1336 |
CACNA1A | SIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKM----MEEYSLEKNER------ACI--- | 1535 |
CACNA1B | SIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKV----MSECSLEKNER------ACI--- | 1441 |
CACNA1C | SIFFIIYIIIIAFFMMNIFVGFVIVTFQEQ>G<EQE----YKNCELDKNQR------QCV--- | 1190 |
CACNA1D | SIFFIIYIIIVAFFMMNIFVGFVIVTFQEQ>G<EKE----YKNCELDKNQR------QCV--- | 1196 |
CACNA1E | SIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKM----MEECSLEKNER------ACI--- | 1447 |
CACNA1F | SVFFIVYIIIIAFFMMNIFVGFVIITFRAQ>G<EQE----YQNCELDKNQR------QCV--- | 1161 |
CACNA1G | LLYFISFLLIVAFFVLNMFVGVVVENFHKC>R<QHQEEEEARRREEKRLRRLEKKRRNLML-- | 1572 |
CACNA1H | LLYFISFLLIVSFFVLNMFVGVVVENFHKC>R<QHQEAEEARRREEK----------RLRRLE | 1582 |
CACNA1I | LLYFISFLLIVSFFVLNMFVGVVVENFHKC>R<QHQEAEEARRREEK----------RLRRLE | 1458 |
CACNA1S | AIFFIIYIILIAFFMMNIFVGFVIVTFQEQ>G<ETE----YKNCELDKNQR------QCV--- | 1089 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1477N | c.4431G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene. Cardiol J. 2013 20(1):78-82. doi: 10.5603/CJ.2013.0012. 23558814 |