Paralogue Annotation for SCN5A residue 1495

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1495
Reference Amino Acid: Y - Tyrosine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1495

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SR1086HMalignant hyperthermiaMedium3 9199552
CACNA1SR1086SMalignant hyperthermiaMedium3 20431982, 26332594
CACNA1SR1086CHypokalaemic periodic paralysisMedium3 10590402, 25637381

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AFIGVIIDNFNQQKKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1506
SCN1AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1519
SCN2AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1509
SCN3AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1504
SCN4AFIGVIIDNFNQQKKKLGGKDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1331
SCN7ALITVIIDNFNKHKIKLGGSNIFITVKQRKQ>Y<------RRL---KK-L----M-YEDS----1229
SCN8AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1500
SCN9AFIGVIIDNFNQQKKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1482
SCN10AFVGVIIDNFNQQKKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1454
SCN11AFIGVIIDNFNQQQKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1344
CACNA1AFVALIIITFQEQGDKM----MEEYSLEKNE>R<------ACI---DFAI------SAKP----1543
CACNA1BFVALIIITFQEQGDKV----MSECSLEKNE>R<------ACI---DFAI------SAKP----1449
CACNA1CFVGFVIVTFQEQGEQE----YKNCELDKNQ>R<------QCV---EYAL------KARP----1198
CACNA1DFVGFVIVTFQEQGEKE----YKNCELDKNQ>R<------QCV---EYAL------KARP----1204
CACNA1EFVALIIITFQEQGDKM----MEECSLEKNE>R<------ACI---DFAI------SAKP----1455
CACNA1FFVGFVIITFRAQGEQE----YQNCELDKNQ>R<------QCV---EYAL------KAQP----1169
CACNA1GFVGVVVENFHKCRQHQEEEEARRREEKRLR>R<LEKKRRNLML--DDVI-----ASGSSASAA1585
CACNA1HFVGVVVENFHKCRQHQEAEEARRREEK--->-<------RLRRLERRRRSTFPSPEAQ-----1595
CACNA1IFVGVVVENFHKCRQHQEAEEARRREEK--->-<------RLRRLEKKRR------KAQ-----1465
CACNA1SFVGFVIVTFQEQGETE----YKNCELDKNQ>R<------QCV---QYAL------KARP----1097
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1495Sc.4484A>C Inherited ArrhythmiaLQTSrs199473262SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085