Paralogue Annotation for SCN5A residue 440

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 440
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 440

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AE388KEpisodic ataxia 2Low3 21696515

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.



SCN5AVVAMAYEEQNQATIAETEEK-EKRFQEAME>M<LKK------------EHEALTIRGVDTVS-457
SCN1AVVAMAYEEQNQATLEEAEQK-EAEFQQMIE>Q<LKK------------QQEAAQQAATATAS-467
SCN2AVVAMAYEEQNQATLEEAEQK-EAEFQQMLE>Q<LKK------------QQEEAQAAAAAASA-469
SCN3AVVAMAYEEQNQATLEEAEQK-EAEFQQMLE>Q<LKK------------QQEEAQAVAAASAA-468
SCN4AVVAMAYAEQNEATLAEDKEK-EEEFQQMLE>K<FKK------------HQEELEKAKAAQAL-491
SCN7AILAMAYEEEKQRVGEISKKI-EPKFQQTGK>E<LQE------------GNETDEAK-------432
SCN8AVVAMAYEEQNQATLEEAEQK-EAEFKAMLE>Q<LKK------------QQEEAQAAAMATSAG456
SCN9AVVAMAYEEQNQANIEEAKQK-ELEFQQMLD>R<LKK------------EQEEAEAIAAAAAE-446
SCN10AVVTMAYEEQNQATTDEIEAK-EKKFQEALE>M<LRK------------EQEVLAALGIDTTS-441
SCN11AVVTMAYEEQNKNVAAEIEAK-EKMFQEAQQ>L<LKE------------EKEALVAMGIDRSS-444
CACNA1AVLSGEFAKERERVENRRAFLKLRRQQQIER>E<LNG------------YMEWISKA-EE----401
CACNA1BVLSGEFAKERERVENRRAFLKLRRQQQIER>E<LNG------------YLEWIFKA-EE----397
CACNA1CVLSGEFSKEREKAKARGDFQKLREKQQLEE>D<LKG------------YLDWITQA-ED----446
CACNA1DVLSGEFSKEREKAKARGDFQKLREKQQLEE>D<LKG------------YLDWITQA-ED----447
CACNA1EVLSGEFAKERERVENRRAFMKLRRQQQIER>E<LNG------------YRAWIDKA-EE----392
CACNA1FVLSGEFSKEREKAKARGDFQKQREKQQMEE>D<LRG------------YLDWITQA-EE----413
CACNA1GVIATQFSETKQRESQLMREQRVRFLSNAST>L<ASFSEPGSCYEELLKYLVYILRKAAR----449
CACNA1HVIATQFSETKQRESQLMREQRARHLSNDST>L<ASFSEPGSCYEELLKYVGHIFRKVKR----473
CACNA1IVIATQFSETKQREHRLMLEQRQRYLS-SST>V<ASYAEPGDCYEEIFQYVCHILRKAKR----451
CACNA1SVLSGEFTKEREKAKSRGTFQKLREKQQLDE>D<LRG------------YMSWITQG-EV----375
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 440 for SCN5A.