Paralogue Annotation for SCN5A residue 1483

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1483
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1483

No paralogue variants have been mapped to residue 1483 for SCN5A.



SCN5AFIIFGSFFTLNLFIGVIIDNFNQQKKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L--1501
SCN1AFIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L--1514
SCN2AFIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L--1504
SCN3AFIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L--1499
SCN4AFIIFGSFFTLNLFIGVIIDNFNQQKKKLGG>K<DIFMTEEQKKYY------NAM---KK-L--1326
SCN7AFIIFGVFLPLSMLITVIIDNFNKHKIKLGG>S<NIFITVKQRKQY------RRL---KK-L--1224
SCN8AFIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L--1495
SCN9AFIIFGSFFTLNLFIGVIIDNFNQQKKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L--1477
SCN10AFIIFGGFFTLNLFVGVIIDNFNQQKKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L--1449
SCN11AFIIFGSFFTLNLFIGVIIDNFNQQQKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L--1339
CACNA1AYFVVFPFFFVNIFVALIIITFQEQGDKM-->-<-MEEYSLEKNER------ACI---DFAI--1539
CACNA1BYFVVFPFFFVNIFVALIIITFQEQGDKV-->-<-MSECSLEKNER------ACI---DFAI--1445
CACNA1CYIIIIAFFMMNIFVGFVIVTFQEQGEQE-->-<-YKNCELDKNQR------QCV---EYAL--1194
CACNA1DYIIIVAFFMMNIFVGFVIVTFQEQGEKE-->-<-YKNCELDKNQR------QCV---EYAL--1200
CACNA1EYFVVFPFFFVNIFVALIIITFQEQGDKM-->-<-MEECSLEKNER------ACI---DFAI--1451
CACNA1FYIIIIAFFMMNIFVGFVIITFRAQGEQE-->-<-YQNCELDKNQR------QCV---EYAL--1165
CACNA1GFLLIVAFFVLNMFVGVVVENFHKCRQHQEE>E<EARRREEKRLRRLEKKRRNLML--DDVI--1576
CACNA1HFLLIVSFFVLNMFVGVVVENFHKCRQHQEA>E<EARRREEK----------RLRRLERRRRST1588
CACNA1IFLLIVSFFVLNMFVGVVVENFHKCRQHQEA>E<EARRREEK----------RLRRLEKKRR--1462
CACNA1SYIILIAFFMMNIFVGFVIVTFQEQGETE-->-<-YKNCELDKNQR------QCV---QYAL--1093
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1483Hc.4449G>C Putative BenignSIFT:
Polyphen: