Paralogue Annotation for SCN5A residue 1458

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1458
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1458

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AG1406DBrugada syndromeMedium9 24998131
SCN1AS1471FDravet syndromeHigh9 26096185

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.



SCN5AAVDSRGYEEQPQWEYNLYMYIYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKLGGQDIFMT1488
SCN1AAVDSRNVELQPKYEESLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1501
SCN2AAVDSRNVELQPKYEDNLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1491
SCN3AAVDSRDVKLQPVYEENLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1486
SCN4AAVDSREKEEQPQYEVNLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKLGGKDIFMT1313
SCN7AAIDSVAVNIQPHFEVNIYMYCYFINFIIFG>V<FLPLSMLITVIIDNFNKHKIKLGGSNIFIT1211
SCN8AAVDSRKPDEQPKYEDNIYMYIYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1482
SCN9AAVDSVNVDKQPKYEYSLYMYIYFVVFIIFG>S<FFTLNLFIGVIIDNFNQQKKKLGGQDIFMT1464
SCN10AAVDSREVNMQPKWEDNVYMYLYFVIFIIFG>G<FFTLNLFVGVIIDNFNQQKKKLGGQDIFMT1436
SCN11AAVDSTEKEQQPEFESNSLGYIYFVVFIIFG>S<FFTLNLFIGVIIDNFNQQQKKLGGQDIFMT1326
CACNA1ASVDATFENQGPSPGYRMEMSIFYVVYFVVF>P<FFFVNIFVALIIITFQEQGDKM----MEEY1525
CACNA1BSVDATYEEQGPSPGYRMELSIFYVVYFVVF>P<FFFVNIFVALIIITFQEQGDKV----MSEC1431
CACNA1CSIDSHTEDKGPIYNYRVEISIFFIIYIIII>A<FFMMNIFVGFVIVTFQEQGEQE----YKNC1180
CACNA1DAIDSNGENIGPIYNHRVEISIFFIIYIIIV>A<FFMMNIFVGFVIVTFQEQGEKE----YKNC1186
CACNA1ESVDVTEEDRGPSRSNRMEMSIFYVVYFVVF>P<FFFVNIFVALIIITFQEQGDKM----MEEC1437
CACNA1FAIDAYAEDHGPIYNYRVEISVFFIVYIIII>A<FFMMNIFVGFVIITFRAQGEQE----YQNC1151
CACNA1GGLDAVGVDQQPIMNHNPWMLLYFISFLLIV>A<FFVLNMFVGVVVENFHKCRQHQEEEEARRR1555
CACNA1HGLDAVGVDQQPVQNHNPWMLLYFISFLLIV>S<FFVLNMFVGVVVENFHKCRQHQEAEEARRR1573
CACNA1IGLDAVAVDQQPVTNHNPWMLLYFISFLLIV>S<FFVLNMFVGVVVENFHKCRQHQEAEEARRR1449
CACNA1SAIDSNAEDVGPIYNNRVEMAIFFIIYIILI>A<FFMMNIFVGFVIVTFQEQGETE----YKNC1079
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1458Yc.4373C>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300