Paralogue Annotation for SCN5A residue 1459

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1459
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1459

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1472SMyoclonic epilepsy, borderlineHigh9 23195492

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.



SCN5AVDSRGYEEQPQWEYNLYMYIYFVIFIIFGS>F<FTLNLFIGVIIDNFNQQKKKLGGQDIFMTE1489
SCN1AVDSRNVELQPKYEESLYMYLYFVIFIIFGS>F<FTLNLFIGVIIDNFNQQKKKFGGQDIFMTE1502
SCN2AVDSRNVELQPKYEDNLYMYLYFVIFIIFGS>F<FTLNLFIGVIIDNFNQQKKKFGGQDIFMTE1492
SCN3AVDSRDVKLQPVYEENLYMYLYFVIFIIFGS>F<FTLNLFIGVIIDNFNQQKKKFGGQDIFMTE1487
SCN4AVDSREKEEQPQYEVNLYMYLYFVIFIIFGS>F<FTLNLFIGVIIDNFNQQKKKLGGKDIFMTE1314
SCN7AIDSVAVNIQPHFEVNIYMYCYFINFIIFGV>F<LPLSMLITVIIDNFNKHKIKLGGSNIFITV1212
SCN8AVDSRKPDEQPKYEDNIYMYIYFVIFIIFGS>F<FTLNLFIGVIIDNFNQQKKKFGGQDIFMTE1483
SCN9AVDSVNVDKQPKYEYSLYMYIYFVVFIIFGS>F<FTLNLFIGVIIDNFNQQKKKLGGQDIFMTE1465
SCN10AVDSREVNMQPKWEDNVYMYLYFVIFIIFGG>F<FTLNLFVGVIIDNFNQQKKKLGGQDIFMTE1437
SCN11AVDSTEKEQQPEFESNSLGYIYFVVFIIFGS>F<FTLNLFIGVIIDNFNQQQKKLGGQDIFMTE1327
CACNA1AVDATFENQGPSPGYRMEMSIFYVVYFVVFP>F<FFVNIFVALIIITFQEQGDKM----MEEYS1526
CACNA1BVDATYEEQGPSPGYRMELSIFYVVYFVVFP>F<FFVNIFVALIIITFQEQGDKV----MSECS1432
CACNA1CIDSHTEDKGPIYNYRVEISIFFIIYIIIIA>F<FMMNIFVGFVIVTFQEQGEQE----YKNCE1181
CACNA1DIDSNGENIGPIYNHRVEISIFFIIYIIIVA>F<FMMNIFVGFVIVTFQEQGEKE----YKNCE1187
CACNA1EVDVTEEDRGPSRSNRMEMSIFYVVYFVVFP>F<FFVNIFVALIIITFQEQGDKM----MEECS1438
CACNA1FIDAYAEDHGPIYNYRVEISVFFIVYIIIIA>F<FMMNIFVGFVIITFRAQGEQE----YQNCE1152
CACNA1GLDAVGVDQQPIMNHNPWMLLYFISFLLIVA>F<FVLNMFVGVVVENFHKCRQHQEEEEARRRE1556
CACNA1HLDAVGVDQQPVQNHNPWMLLYFISFLLIVS>F<FVLNMFVGVVVENFHKCRQHQEAEEARRRE1574
CACNA1ILDAVAVDQQPVTNHNPWMLLYFISFLLIVS>F<FVLNMFVGVVVENFHKCRQHQEAEEARRRE1450
CACNA1SIDSNAEDVGPIYNNRVEMAIFFIIYIILIA>F<FMMNIFVGFVIVTFQEQGETE----YKNCE1080
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1459 for SCN5A.