Paralogue Annotation for SCN5A residue 1545

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1545
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1545

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AM1370VHyperkalaemic periodic paralysisHigh9 11757950

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.



SCN5ANKYQGFIFDIVTKQAFDVTIMFLICLNMVT>M<MVETDDQSPEKINILAKINLLFVAIFTGEC1575
SCN1ANKFQGMVFDFVTRQVFDISIMILICLNMVT>M<MVETDDQSEYVTTILSRINLVFIVLFTGEC1588
SCN2ANKFQGMVFDFVTKQVFDISIMILICLNMVT>M<MVETDDQSQEMTNILYWINLVFIVLFTGEC1578
SCN3ANKFQGMVFDFVTRQVFDISIMILICLNMVT>M<MVETDDQGKYMTLVLSRINLVFIVLFTGEF1573
SCN4ANKIQGMVYDLVTKQAFDITIMILICLNMVT>M<MVETDNQSQLKVDILYNINMIFIIIFTGEC1400
SCN7ANKLQGFIFDVVTSQAFNVIVMVLICFQAIA>M<MIDTDVQSLQMSIALYWINSIFVMLYTMEC1298
SCN8ANKIQGIVFDFVTQQAFDIVIMMLICLNMVT>M<MVETDTQSKQMENILYWINLVFVIFFTCEC1569
SCN9ANKIQGCIFDLVTNQAFDISIMVLICLNMVT>M<MVEKEGQSQHMTEVLYWINVVFIILFTGEC1551
SCN10ANKFQGFVFDIVTRQAFDITIMVLICLNMIT>M<MVETDDQSEEKTKILGKINQFFVAVFTGEC1523
SCN11ANKCQGLVFDIVTSQIFDIIIISLIILNMIS>M<MAESYNQPKAMKSILDHLNWVFVVIFTLEC1413
CACNA1AQSFQYRMWQFVVSPPFEYTIMAMIALNTIV>L<MMKFYGASVAYENALRVFNIVFTSLFSLEC1613
CACNA1BQSFQYKTWTFVVSPPFEYFIMAMIALNTVV>L<MMKFYDAPYEYELMLKCLNIVFTSMFSMEC1519
CACNA1CNQHQYKVWYVVNSTYFEYLMFVLILLNTIC>L<AMQHYGQSCLFKIAMNILNMLFTGLFTVEM1266
CACNA1DNPYQYKFWYVVNSSPFEYMMFVLIMLNTLC>L<AMQHYEQSKMFNDAMDILNMVFTGVFTVEM1272
CACNA1EHTFQYRVWHFVVSPSFEYTIMAMIALNTVV>L<MMKYYSAPCTYELALKYLNIAFTMVFSLEC1525
CACNA1FNPHQYRVWATVNSAAFEYLMFLLILLNTVA>L<AMQHYEQTAPFNYAMDILNMVFTGLFTIEM1237
CACNA1GSRFRLLVHHLCTSHYLDLFITGVIGLNVVT>M<AMEHYQQPQILDEALKICNYIFTVIFVLES1658
CACNA1HSPTRRSIHSLCTSHYLDLFITFIICVNVIT>M<SMEHYNQPKSLDEALKYCNYVFTIVFVFEA1664
CACNA1ICHTRLLIHSMCTSHYLDIFITFIICLNVVT>M<SLEHYNQPTSLETALKYCNYMFTTVFVLEA1534
CACNA1SNPYQYQVWYIVTSSYFEYLMFALIMLNTIC>L<GMQHYNQSEQMNHISDILNVAFTIIFTLEM1165
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1545 for SCN5A.