Paralogue Annotation for SCN5A residue 1530

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1530
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1530

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1543SCryptogenic focal epilepsyHigh9 17347258, 24328833

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.



SCN5A-------QKPIPRPLNKYQGFIFDIVTKQA>F<DVTIMFLICLNMVTMMVETDDQSPEKINIL1560
SCN1A-------QKPIPRPGNKFQGMVFDFVTRQV>F<DISIMILICLNMVTMMVETDDQSEYVTTIL1573
SCN2A-------QKPIPRPANKFQGMVFDFVTKQV>F<DISIMILICLNMVTMMVETDDQSQEMTNIL1563
SCN3A-------QKPIPRPANKFQGMVFDFVTRQV>F<DISIMILICLNMVTMMVETDDQGKYMTLVL1558
SCN4A-------QKPIPRPQNKIQGMVYDLVTKQA>F<DITIMILICLNMVTMMVETDNQSQLKVDIL1385
SCN7A-------QRPVPRPLNKLQGFIFDVVTSQA>F<NVIVMVLICFQAIAMMIDTDVQSLQMSIAL1283
SCN8A-------QKPIPRPLNKIQGIVFDFVTQQA>F<DIVIMMLICLNMVTMMVETDTQSKQMENIL1554
SCN9A-------QKPIPRPGNKIQGCIFDLVTNQA>F<DISIMVLICLNMVTMMVEKEGQSQHMTEVL1536
SCN10A-------QKPIPRPLNKFQGFVFDIVTRQA>F<DITIMVLICLNMITMMVETDDQSEEKTKIL1508
SCN11A-------QKPIPRPLNKCQGLVFDIVTSQI>F<DIIIISLIILNMISMMAESYNQPKAMKSIL1398
CACNA1A------LTRHMPQNKQSFQYRMWQFVVSPP>F<EYTIMAMIALNTIVLMMKFYGASVAYENAL1598
CACNA1B------LTRYMPQNRQSFQYKTWTFVVSPP>F<EYFIMAMIALNTVVLMMKFYDAPYEYELML1504
CACNA1C------LRRYIPK--NQHQYKVWYVVNSTY>F<EYLMFVLILLNTICLAMQHYGQSCLFKIAM1251
CACNA1D------LRRYIPK--NPYQYKFWYVVNSSP>F<EYMMFVLIMLNTLCLAMQHYEQSKMFNDAM1257
CACNA1E------LTRYMPQNRHTFQYRVWHFVVSPS>F<EYTIMAMIALNTVVLMMKYYSAPCTYELAL1510
CACNA1F------LRRYIPK--NPHQYRVWATVNSAA>F<EYLMFLLILLNTVALAMQHYEQTAPFNYAM1222
CACNA1GSAASEAQCKPYYSDYSRFRLLVHHLCTSHY>L<DLFITGVIGLNVVTMAMEHYQQPQILDEAL1643
CACNA1H-------RRPYYADYSPTRRSIHSLCTSHY>L<DLFITFIICVNVITMSMEHYNQPKSLDEAL1649
CACNA1I-------RLPYYATYCHTRLLIHSMCTSHY>L<DIFITFIICLNVVTMSLEHYNQPTSLETAL1519
CACNA1S------LRCYIPK--NPYQYQVWYIVTSSY>F<EYLMFALIMLNTICLGMQHYNQSEQMNHIS1150
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1530 for SCN5A.