Paralogue Annotation for SCN5A residue 403

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 403
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 403

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY413NMyoclonic epilepsy of infancyHigh9 17347258, 23895530

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.



SCN5AWERLYQQTLRSAGKIY-MIFFMLVIFLGSF>Y<LVNLILAVVAMAYEEQNQATIAETEEK-EK432
SCN1AWENLYQLTLRAAGKTY-MIFFVLVIFLGSF>Y<LINLILAVVAMAYEEQNQATLEEAEQK-EA442
SCN2AWENLYQLTLRAAGKTY-MIFFVLVIFLGSF>Y<LINLILAVVAMAYEEQNQATLEEAEQK-EA444
SCN3AWENLYQLTLRAAGKTY-MIFFVLVIFLGSF>Y<LVNLILAVVAMAYEEQNQATLEEAEQK-EA443
SCN4AWENLFQLTLRAAGKTY-MIFFVVIIFLGSF>Y<LINLILAVVAMAYAEQNEATLAEDKEK-EE466
SCN7APEVLYHQILYASGKVY-MIFFVVVSFLFSF>Y<MASLFLGILAMAYEEEKQRVGEISKKI-EP413
SCN8AWENLYQLTLRAAGKTY-MIFFVLVIFVGSF>Y<LVNLILAVVAMAYEEQNQATLEEAEQK-EA430
SCN9AWENLYQQTLRAAGKTY-MIFFVVVIFLGSF>Y<LINLILAVVAMAYEEQNQANIEEAKQK-EL421
SCN10AWERLYQQTLRTSGKIY-MIFFVLVIFLGSF>Y<LVNLILAVVTMAYEEQNQATTDEIEAK-EK416
SCN11AWEKLYQQTLRTTGLYS-VFFFIVVIFLGSF>Y<LINLTLAVVTMAYEEQNKNVAAEIEAK-EK419
CACNA1AWTDLLYNSNDASGNTWNWLYFIPLIIIGSF>F<MLNLVLGVLSGEFAKERERVENRRAFLKLR380
CACNA1BWTDILYNTNDAAGNTWNWLYFIPLIIIGSF>F<MLNLVLGVLSGEFAKERERVENRRAFLKLR376
CACNA1CWTDVLYWVNDAVGRDWPWIYFVTLIIIGSF>F<VLNLVLGVLSGEFSKEREKAKARGDFQKLR425
CACNA1DWTDVLYWVNDAIGWEWPWVYFVSLIILGSF>F<VLNLVLGVLSGEFSKEREKAKARGDFQKLR426
CACNA1EWTTVLYNTNDALGATWNWLYFIPLIIIGSF>F<VLNLVLGVLSGEFAKERERVENRRAFMKLR371
CACNA1FWTDVLYWMQDAMGYELPWVYFVSLVIFGSF>F<VLNLVLGVLSGEFSKEREKAKARGDFQKQR392
CACNA1GWVDIMYFVMDAHSF-YNFIYFILLIIVGSF>F<MINLCLVVIATQFSETKQRESQLMREQRVR415
CACNA1HWVDIMYYVMDAHSF-YNFIYFILLIIVGSF>F<MINLCLVVIATQFSETKQRESQLMREQRAR439
CACNA1IWVEIMYYVMDAHSF-YNFIYFILLIIVGSF>F<MINLCLVVIATQFSETKQREHRLMLEQRQR418
CACNA1SWTDVLYWVNDAIGNEWPWIYFVTLILLGSF>F<ILNLVLGVLSGEFTKEREKAKSRGTFQKLR354
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 403 for SCN5A.