Paralogue Annotation for SCN5A residue 1457

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1457
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1457

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1470WMyoclonic epilepsy of infancyHigh9 17561957
SCN8AG1451SIntellectual disability and epilepsyHigh9 25725044, 25725044

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.



SCN5AAAVDSRGYEEQPQWEYNLYMYIYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKLGGQDIFM1487
SCN1AAAVDSRNVELQPKYEESLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1500
SCN2AAAVDSRNVELQPKYEDNLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1490
SCN3AAAVDSRDVKLQPVYEENLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1485
SCN4AAAVDSREKEEQPQYEVNLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKLGGKDIFM1312
SCN7ASAIDSVAVNIQPHFEVNIYMYCYFINFIIF>G<VFLPLSMLITVIIDNFNKHKIKLGGSNIFI1210
SCN8AAAVDSRKPDEQPKYEDNIYMYIYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1481
SCN9AAAVDSVNVDKQPKYEYSLYMYIYFVVFIIF>G<SFFTLNLFIGVIIDNFNQQKKKLGGQDIFM1463
SCN10AAAVDSREVNMQPKWEDNVYMYLYFVIFIIF>G<GFFTLNLFVGVIIDNFNQQKKKLGGQDIFM1435
SCN11AAAVDSTEKEQQPEFESNSLGYIYFVVFIIF>G<SFFTLNLFIGVIIDNFNQQQKKLGGQDIFM1325
CACNA1AHSVDATFENQGPSPGYRMEMSIFYVVYFVV>F<PFFFVNIFVALIIITFQEQGDKM----MEE1524
CACNA1BHSVDATYEEQGPSPGYRMELSIFYVVYFVV>F<PFFFVNIFVALIIITFQEQGDKV----MSE1430
CACNA1CRSIDSHTEDKGPIYNYRVEISIFFIIYIII>I<AFFMMNIFVGFVIVTFQEQGEQE----YKN1179
CACNA1DKAIDSNGENIGPIYNHRVEISIFFIIYIII>V<AFFMMNIFVGFVIVTFQEQGEKE----YKN1185
CACNA1EHSVDVTEEDRGPSRSNRMEMSIFYVVYFVV>F<PFFFVNIFVALIIITFQEQGDKM----MEE1436
CACNA1FKAIDAYAEDHGPIYNYRVEISVFFIVYIII>I<AFFMMNIFVGFVIITFRAQGEQE----YQN1150
CACNA1GDGLDAVGVDQQPIMNHNPWMLLYFISFLLI>V<AFFVLNMFVGVVVENFHKCRQHQEEEEARR1554
CACNA1HDGLDAVGVDQQPVQNHNPWMLLYFISFLLI>V<SFFVLNMFVGVVVENFHKCRQHQEAEEARR1572
CACNA1INGLDAVAVDQQPVTNHNPWMLLYFISFLLI>V<SFFVLNMFVGVVVENFHKCRQHQEAEEARR1448
CACNA1SKAIDSNAEDVGPIYNNRVEMAIFFIIYIIL>I<AFFMMNIFVGFVIVTFQEQGETE----YKN1078
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1457 for SCN5A.