Paralogue Annotation for SCN5A residue 373

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 373
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 373

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF383LMyoclonic epilepsy of infancyMedium9 17054684

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.



SCN5AKAGENPDHGYTSFDSFAWAFLALFRLMTQD>C<WERLYQQTLRSAGKIY-MIFFMLVIFLGSF402
SCN1AKAGRNPNYGYTSFDTFSWAFLSLFRLMTQD>F<WENLYQLTLRAAGKTY-MIFFVLVIFLGSF412
SCN2AKAGRNPNYGYTSFDTFSWAFLSLFRLMTQD>F<WENLYQLTLRAAGKTY-MIFFVLVIFLGSF414
SCN3AKAGRNPNYGYTSFDTFSWAFLSLFRLMTQD>Y<WENLYQLTLRAAGKTY-MIFFVLVIFLGSF413
SCN4AKTGRNPNYGYTSYDTFSWAFLALFRLMTQD>Y<WENLFQLTLRAAGKTY-MIFFVVIIFLGSF436
SCN7AKAGINPDQGFTNFDSFGWALFALFRLMAQD>Y<PEVLYHQILYASGKVY-MIFFVVVSFLFSF383
SCN8AKAGRNPNYGYTSFDTFSWAFLALFRLMTQD>Y<WENLYQLTLRAAGKTY-MIFFVLVIFVGSF400
SCN9AKIGRNPDYGYTSFDTFSWAFLALFRLMTQD>Y<WENLYQQTLRAAGKTY-MIFFVVVIFLGSF391
SCN10AKTSDNPDFNYTSFDSFAWAFLSLFRLMTQD>S<WERLYQQTLRTSGKIY-MIFFVLVIFLGSF386
SCN11AHTKINPDYNYTNFDNFGWSFLAMFRLMTQD>S<WEKLYQQTLRTTGLYS-VFFFIVVIFLGSF389
CACNA1APYWEGPNNGITQFDNILFAVLTVFQCITME>G<WTDLLYNSNDASGNTWNWLYFIPLIIIGSF349
CACNA1BEYWPGPNFGITNFDNILFAILTVFQCITME>G<WTDILYNTNDAAGNTWNWLYFIPLIIIGSF345
CACNA1CPGWDGPKHGITNFDNFAFAMLTVFQCITME>G<WTDVLYWVNDAVGRDWPWIYFVTLIIIGSF394
CACNA1DSGWVGPNGGITNFDNFAFAMLTVFQCITME>G<WTDVLYWVNDAIGWEWPWVYFVSLIILGSF395
CACNA1EKDWIGPNDGITQFDNILFAVLTVFQCITME>G<WTTVLYNTNDALGATWNWLYFIPLIIIGSF340
CACNA1FGRWPGPNGGITNFDNFFFAMLTVFQCVTME>G<WTDVLYWMQDAMGYELPWVYFVSLVIFGSF361
CACNA1GAGEHNPFKGAINFDNIGYAWIAIFQVITLE>G<WVDIMYFVMDAHSF-YNFIYFILLIIVGSF384
CACNA1HSGDSNPHNGAINFDNIGYAWIAIFQVITLE>G<WVDIMYYVMDAHSF-YNFIYFILLIIVGSF408
CACNA1ITGSANPHKGAINFDNIGYAWIVIFQVITLE>G<WVEIMYYVMDAHSF-YNFIYFILLIIVGSF387
CACNA1SGGWPGPNHGITHFDNFGFSMLTVYQCITME>G<WTDVLYWVNDAIGNEWPWIYFVTLILLGSF323
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 373 for SCN5A.