Paralogue Annotation for SCN5A residue 372

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 372
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 372

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD382NEpilepsy ?High9 21248271
SCN1AD382EDravet syndromeHigh9 24168886

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.



SCN5ALKAGENPDHGYTSFDSFAWAFLALFRLMTQ>D<CWERLYQQTLRSAGKIY-MIFFMLVIFLGS401
SCN1AVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ>D<FWENLYQLTLRAAGKTY-MIFFVLVIFLGS411
SCN2AVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ>D<FWENLYQLTLRAAGKTY-MIFFVLVIFLGS413
SCN3AVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ>D<YWENLYQLTLRAAGKTY-MIFFVLVIFLGS412
SCN4AIKTGRNPNYGYTSYDTFSWAFLALFRLMTQ>D<YWENLFQLTLRAAGKTY-MIFFVVIIFLGS435
SCN7AVKAGINPDQGFTNFDSFGWALFALFRLMAQ>D<YPEVLYHQILYASGKVY-MIFFVVVSFLFS382
SCN8AMKAGRNPNYGYTSFDTFSWAFLALFRLMTQ>D<YWENLYQLTLRAAGKTY-MIFFVLVIFVGS399
SCN9AVKIGRNPDYGYTSFDTFSWAFLALFRLMTQ>D<YWENLYQQTLRAAGKTY-MIFFVVVIFLGS390
SCN10ALKTSDNPDFNYTSFDSFAWAFLSLFRLMTQ>D<SWERLYQQTLRTSGKIY-MIFFVLVIFLGS385
SCN11AKHTKINPDYNYTNFDNFGWSFLAMFRLMTQ>D<SWEKLYQQTLRTTGLYS-VFFFIVVIFLGS388
CACNA1AQPYWEGPNNGITQFDNILFAVLTVFQCITM>E<GWTDLLYNSNDASGNTWNWLYFIPLIIIGS348
CACNA1BREYWPGPNFGITNFDNILFAILTVFQCITM>E<GWTDILYNTNDAAGNTWNWLYFIPLIIIGS344
CACNA1CKPGWDGPKHGITNFDNFAFAMLTVFQCITM>E<GWTDVLYWVNDAVGRDWPWIYFVTLIIIGS393
CACNA1DRSGWVGPNGGITNFDNFAFAMLTVFQCITM>E<GWTDVLYWVNDAIGWEWPWVYFVSLIILGS394
CACNA1E-KDWIGPNDGITQFDNILFAVLTVFQCITM>E<GWTTVLYNTNDALGATWNWLYFIPLIIIGS339
CACNA1FRGRWPGPNGGITNFDNFFFAMLTVFQCVTM>E<GWTDVLYWMQDAMGYELPWVYFVSLVIFGS360
CACNA1GSAGEHNPFKGAINFDNIGYAWIAIFQVITL>E<GWVDIMYFVMDAHSF-YNFIYFILLIIVGS383
CACNA1HRSGDSNPHNGAINFDNIGYAWIAIFQVITL>E<GWVDIMYYVMDAHSF-YNFIYFILLIIVGS407
CACNA1IRTGSANPHKGAINFDNIGYAWIVIFQVITL>E<GWVEIMYYVMDAHSF-YNFIYFILLIIVGS386
CACNA1SRGGWPGPNHGITHFDNFGFSMLTVYQCITM>E<GWTDVLYWVNDAIGNEWPWIYFVTLILLGS322
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 372 for SCN5A.