Paralogue Annotation for SCN5A residue 1535

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1535
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1535

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AM1360VHyperkalaemic periodic paralysisHigh9 8215982, 12562902

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--QKPIPRPLNKYQGFIFDIVTKQAFDVTI>M<FLICLNMVTMMVETDDQSPEKINILAKINL1565
SCN1A--QKPIPRPGNKFQGMVFDFVTRQVFDISI>M<ILICLNMVTMMVETDDQSEYVTTILSRINL1578
SCN2A--QKPIPRPANKFQGMVFDFVTKQVFDISI>M<ILICLNMVTMMVETDDQSQEMTNILYWINL1568
SCN3A--QKPIPRPANKFQGMVFDFVTRQVFDISI>M<ILICLNMVTMMVETDDQGKYMTLVLSRINL1563
SCN4A--QKPIPRPQNKIQGMVYDLVTKQAFDITI>M<ILICLNMVTMMVETDNQSQLKVDILYNINM1390
SCN7A--QRPVPRPLNKLQGFIFDVVTSQAFNVIV>M<VLICFQAIAMMIDTDVQSLQMSIALYWINS1288
SCN8A--QKPIPRPLNKIQGIVFDFVTQQAFDIVI>M<MLICLNMVTMMVETDTQSKQMENILYWINL1559
SCN9A--QKPIPRPGNKIQGCIFDLVTNQAFDISI>M<VLICLNMVTMMVEKEGQSQHMTEVLYWINV1541
SCN10A--QKPIPRPLNKFQGFVFDIVTRQAFDITI>M<VLICLNMITMMVETDDQSEEKTKILGKINQ1513
SCN11A--QKPIPRPLNKCQGLVFDIVTSQIFDIII>I<SLIILNMISMMAESYNQPKAMKSILDHLNW1403
CACNA1A-LTRHMPQNKQSFQYRMWQFVVSPPFEYTI>M<AMIALNTIVLMMKFYGASVAYENALRVFNI1603
CACNA1B-LTRYMPQNRQSFQYKTWTFVVSPPFEYFI>M<AMIALNTVVLMMKFYDAPYEYELMLKCLNI1509
CACNA1C-LRRYIPK--NQHQYKVWYVVNSTYFEYLM>F<VLILLNTICLAMQHYGQSCLFKIAMNILNM1256
CACNA1D-LRRYIPK--NPYQYKFWYVVNSSPFEYMM>F<VLIMLNTLCLAMQHYEQSKMFNDAMDILNM1262
CACNA1E-LTRYMPQNRHTFQYRVWHFVVSPSFEYTI>M<AMIALNTVVLMMKYYSAPCTYELALKYLNI1515
CACNA1F-LRRYIPK--NPHQYRVWATVNSAAFEYLM>F<LLILLNTVALAMQHYEQTAPFNYAMDILNM1227
CACNA1GAQCKPYYSDYSRFRLLVHHLCTSHYLDLFI>T<GVIGLNVVTMAMEHYQQPQILDEALKICNY1648
CACNA1H--RRPYYADYSPTRRSIHSLCTSHYLDLFI>T<FIICVNVITMSMEHYNQPKSLDEALKYCNY1654
CACNA1I--RLPYYATYCHTRLLIHSMCTSHYLDIFI>T<FIICLNVVTMSLEHYNQPTSLETALKYCNY1524
CACNA1S-LRCYIPK--NPYQYQVWYIVTSSYFEYLM>F<ALIMLNTICLGMQHYNQSEQMNHISDILNV1155
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1535 for SCN5A.