Paralogue Annotation for SCN5A residue 432

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 432
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 432

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AK419NPainful peripheral neuropathyHigh4 24776970

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.



SCN5AYLVNLILAVVAMAYEEQNQATIAETEEK-E>K<RFQEAMEMLKK------------EHEALTI450
SCN1AYLINLILAVVAMAYEEQNQATLEEAEQK-E>A<EFQQMIEQLKK------------QQEAAQQ460
SCN2AYLINLILAVVAMAYEEQNQATLEEAEQK-E>A<EFQQMLEQLKK------------QQEEAQA462
SCN3AYLVNLILAVVAMAYEEQNQATLEEAEQK-E>A<EFQQMLEQLKK------------QQEEAQA461
SCN4AYLINLILAVVAMAYAEQNEATLAEDKEK-E>E<EFQQMLEKFKK------------HQEELEK484
SCN7AYMASLFLGILAMAYEEEKQRVGEISKKI-E>P<KFQQTGKELQE------------GNETDEA431
SCN8AYLVNLILAVVAMAYEEQNQATLEEAEQK-E>A<EFKAMLEQLKK------------QQEEAQA448
SCN9AYLINLILAVVAMAYEEQNQANIEEAKQK-E>L<EFQQMLDRLKK------------EQEEAEA439
SCN10AYLVNLILAVVTMAYEEQNQATTDEIEAK-E>K<KFQEALEMLRK------------EQEVLAA434
SCN11AYLINLTLAVVTMAYEEQNKNVAAEIEAK-E>K<MFQEAQQLLKE------------EKEALVA437
CACNA1AFMLNLVLGVLSGEFAKERERVENRRAFLKL>R<RQQQIERELNG------------YMEWISK398
CACNA1BFMLNLVLGVLSGEFAKERERVENRRAFLKL>R<RQQQIERELNG------------YLEWIFK394
CACNA1CFVLNLVLGVLSGEFSKEREKAKARGDFQKL>R<EKQQLEEDLKG------------YLDWITQ443
CACNA1DFVLNLVLGVLSGEFSKEREKAKARGDFQKL>R<EKQQLEEDLKG------------YLDWITQ444
CACNA1EFVLNLVLGVLSGEFAKERERVENRRAFMKL>R<RQQQIERELNG------------YRAWIDK389
CACNA1FFVLNLVLGVLSGEFSKEREKAKARGDFQKQ>R<EKQQMEEDLRG------------YLDWITQ410
CACNA1GFMINLCLVVIATQFSETKQRESQLMREQRV>R<FLSNASTLASFSEPGSCYEELLKYLVYILR445
CACNA1HFMINLCLVVIATQFSETKQRESQLMREQRA>R<HLSNDSTLASFSEPGSCYEELLKYVGHIFR469
CACNA1IFMINLCLVVIATQFSETKQREHRLMLEQRQ>R<YLS-SSTVASYAEPGDCYEEIFQYVCHILR447
CACNA1SFILNLVLGVLSGEFTKEREKAKSRGTFQKL>R<EKQQLDEDLRG------------YMSWITQ372
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 432 for SCN5A.