Paralogue Annotation for SCN5A residue 441

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 441
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 441

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AL389FEpisodic ataxia 2Medium3 20129625

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.



SCN5AVAMAYEEQNQATIAETEEK-EKRFQEAMEM>L<KK------------EHEALTIRGVDTVS--457
SCN1AVAMAYEEQNQATLEEAEQK-EAEFQQMIEQ>L<KK------------QQEAAQQAATATAS--467
SCN2AVAMAYEEQNQATLEEAEQK-EAEFQQMLEQ>L<KK------------QQEEAQAAAAAASA--469
SCN3AVAMAYEEQNQATLEEAEQK-EAEFQQMLEQ>L<KK------------QQEEAQAVAAASAA--468
SCN4AVAMAYAEQNEATLAEDKEK-EEEFQQMLEK>F<KK------------HQEELEKAKAAQAL--491
SCN7ALAMAYEEEKQRVGEISKKI-EPKFQQTGKE>L<QE------------GNETDEAK--------432
SCN8AVAMAYEEQNQATLEEAEQK-EAEFKAMLEQ>L<KK------------QQEEAQAAAMATSAGT457
SCN9AVAMAYEEQNQANIEEAKQK-ELEFQQMLDR>L<KK------------EQEEAEAIAAAAAE--446
SCN10AVTMAYEEQNQATTDEIEAK-EKKFQEALEM>L<RK------------EQEVLAALGIDTTS--441
SCN11AVTMAYEEQNKNVAAEIEAK-EKMFQEAQQL>L<KE------------EKEALVAMGIDRSS--444
CACNA1ALSGEFAKERERVENRRAFLKLRRQQQIERE>L<NG------------YMEWISKA-EE-----401
CACNA1BLSGEFAKERERVENRRAFLKLRRQQQIERE>L<NG------------YLEWIFKA-EE-----397
CACNA1CLSGEFSKEREKAKARGDFQKLREKQQLEED>L<KG------------YLDWITQA-ED-----446
CACNA1DLSGEFSKEREKAKARGDFQKLREKQQLEED>L<KG------------YLDWITQA-ED-----447
CACNA1ELSGEFAKERERVENRRAFMKLRRQQQIERE>L<NG------------YRAWIDKA-EE-----392
CACNA1FLSGEFSKEREKAKARGDFQKQREKQQMEED>L<RG------------YLDWITQA-EE-----413
CACNA1GIATQFSETKQRESQLMREQRVRFLSNASTL>A<SFSEPGSCYEELLKYLVYILRKAAR-----449
CACNA1HIATQFSETKQRESQLMREQRARHLSNDSTL>A<SFSEPGSCYEELLKYVGHIFRKVKR-----473
CACNA1IIATQFSETKQREHRLMLEQRQRYLS-SSTV>A<SYAEPGDCYEEIFQYVCHILRKAKR-----451
CACNA1SLSGEFTKEREKAKSRGTFQKLREKQQLDED>L<RG------------YMSWITQG-EV-----375
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L441Fc.1321C>T Putative BenignSIFT:
Polyphen: