Paralogue Annotation for SCN5A residue 1415

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1415
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1415

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1428AFebrile seizuresHigh9 11524484
CACNA1AV1457LHemiplegic migraineHigh9 10408532, 10734061

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.



SCN5ALNLTGE--LYWTKVKVNFDNVGAGYLALLQ>V<ATFKGWMDIMYAAVDSRGYEEQPQWEYNLY1445
SCN1ALIERNET-ARWKNVKVNFDNVGFGYLSLLQ>V<ATFKGWMDIMYAAVDSRNVELQPKYEESLY1458
SCN2ALIESNQT-ARWKNVKVNFDNVGLGYLSLLQ>V<ATFKGWMDIMYAAVDSRNVELQPKYEDNLY1448
SCN3ALGK--Q--ARWKNVKVNFDNVGAGYLALLQ>V<ATFKGWMDIMYAAVDSRDVKLQPVYEENLY1443
SCN4ALMHTGQ--VRWLNVKVNYDNVGLGYLSLLQ>V<ATFKGWMDIMYAAVDSREKEEQPQYEVNLY1270
SCN7ALLFNES--MLWENAKMNFDNVGNGFLSLLQ>V<ATFNGWITIMNSAIDSVAVNIQPHFEVNIY1168
SCN8ALMEGNNTEIRWKNVKINFDNVGAGYLALLQ>V<ATFKGWMDIMYAAVDSRKPDEQPKYEDNIY1439
SCN9ALMNVSQN-VRWKNLKVNFDNVGLGYLSLLQ>V<ATFKGWTIIMYAAVDSVNVDKQPKYEYSLY1421
SCN10AQNSTGS--FFWVNVKVNFDNVAMGYLALLQ>V<ATFKGWMDIMYAAVDSREVNMQPKWEDNVY1393
SCN11AGN------FSWINQKVNFDNVGNAYLALLQ>V<ATFKGWMDIIYAAVDSTEKEQQPEFESNSL1283
CACNA1A---AR--DREWKKYEFHYDNVLWALLTLFT>V<STGEGWPQVLKHSVDATFENQGPSPGYRME1486
CACNA1B---AQ--PRQWKKYDFHYDNVLWALLTLFT>V<STGEGWPMVLKHSVDATYEEQGPSPGYRME1392
CACNA1CP-IIQ--PRSWENSKFDFDNVLAAMMALFT>V<STFEGWPELLYRSIDSHTEDKGPIYNYRVE1141
CACNA1DP-VVR--ERIWQNSDFNFDNVLSAMMALFT>V<STFEGWPALLYKAIDSNGENIGPIYNHRVE1147
CACNA1E---VK--GREWKRHEFHYDNIIWALLTLFT>V<STGEGWPQVLQHSVDVTEEDRGPSRSNRME1398
CACNA1FP-LVR--ERLWVNSDFNFDNVLSAMMALFT>V<STFEGWPALLYKAIDAYAEDHGPIYNYRVE1112
CACNA1G---EA--SYRWVRHKYNFDNLGQALMSLFV>L<ASKDGWVDIMYDGLDAVGVDQQPIMNHNPW1512
CACNA1H---AA--HYRWVRRKYNFDNLGQALMSLFV>L<SSKDGWVNIMYDGLDAVGVDQQPVQNHNPW1530
CACNA1I---AA--NYRWVHHKYNFDNLGQALMSLFV>L<ASKDGWVNIMYNGLDAVAVDQQPVTNHNPW1406
CACNA1SI-ELR--HREWVHSDFHFDNVLSAMMSLFT>V<STFEGWPQLLYKAIDSNAEDVGPIYNNRVE1040
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1415 for SCN5A.