Paralogue Annotation for SCN5A residue 1477

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1477
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1477

No paralogue variants have been mapped to residue 1477 for SCN5A.



SCN5AYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM---1498
SCN1AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1511
SCN2AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1501
SCN3AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1496
SCN4AYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGKDIFMTEEQKKYY------NAM---1323
SCN7AYCYFINFIIFGVFLPLSMLITVIIDNFNKH>K<IKLGGSNIFITVKQRKQY------RRL---1221
SCN8AYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKFGGQDIFMTEEQKKYY------NAM---1492
SCN9AYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM---1474
SCN10AYLYFVIFIIFGGFFTLNLFVGVIIDNFNQQ>K<KKLGGQDIFMTEEQKKYY------NAM---1446
SCN11AYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQ>Q<KKLGGQDIFMTEEQKKYY------NAM---1336
CACNA1ASIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKM----MEEYSLEKNER------ACI---1535
CACNA1BSIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKV----MSECSLEKNER------ACI---1441
CACNA1CSIFFIIYIIIIAFFMMNIFVGFVIVTFQEQ>G<EQE----YKNCELDKNQR------QCV---1190
CACNA1DSIFFIIYIIIVAFFMMNIFVGFVIVTFQEQ>G<EKE----YKNCELDKNQR------QCV---1196
CACNA1ESIFYVVYFVVFPFFFVNIFVALIIITFQEQ>G<DKM----MEECSLEKNER------ACI---1447
CACNA1FSVFFIVYIIIIAFFMMNIFVGFVIITFRAQ>G<EQE----YQNCELDKNQR------QCV---1161
CACNA1GLLYFISFLLIVAFFVLNMFVGVVVENFHKC>R<QHQEEEEARRREEKRLRRLEKKRRNLML--1572
CACNA1HLLYFISFLLIVSFFVLNMFVGVVVENFHKC>R<QHQEAEEARRREEK----------RLRRLE1582
CACNA1ILLYFISFLLIVSFFVLNMFVGVVVENFHKC>R<QHQEAEEARRREEK----------RLRRLE1458
CACNA1SAIFFIIYIILIAFFMMNIFVGFVIVTFQEQ>G<ETE----YKNCELDKNQR------QCV---1089
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1477Nc.4431G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS 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