Paralogue Annotation for SCN5A residue 381

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 381
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 381

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT391PDravet syndromeHigh9 21844054

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.



SCN5AGYTSFDSFAWAFLALFRLMTQDCWERLYQQ>T<LRSAGKIY-MIFFMLVIFLGSFYLVNLILA410
SCN1AGYTSFDTFSWAFLSLFRLMTQDFWENLYQL>T<LRAAGKTY-MIFFVLVIFLGSFYLINLILA420
SCN2AGYTSFDTFSWAFLSLFRLMTQDFWENLYQL>T<LRAAGKTY-MIFFVLVIFLGSFYLINLILA422
SCN3AGYTSFDTFSWAFLSLFRLMTQDYWENLYQL>T<LRAAGKTY-MIFFVLVIFLGSFYLVNLILA421
SCN4AGYTSYDTFSWAFLALFRLMTQDYWENLFQL>T<LRAAGKTY-MIFFVVIIFLGSFYLINLILA444
SCN7AGFTNFDSFGWALFALFRLMAQDYPEVLYHQ>I<LYASGKVY-MIFFVVVSFLFSFYMASLFLG391
SCN8AGYTSFDTFSWAFLALFRLMTQDYWENLYQL>T<LRAAGKTY-MIFFVLVIFVGSFYLVNLILA408
SCN9AGYTSFDTFSWAFLALFRLMTQDYWENLYQQ>T<LRAAGKTY-MIFFVVVIFLGSFYLINLILA399
SCN10ANYTSFDSFAWAFLSLFRLMTQDSWERLYQQ>T<LRTSGKIY-MIFFVLVIFLGSFYLVNLILA394
SCN11ANYTNFDNFGWSFLAMFRLMTQDSWEKLYQQ>T<LRTTGLYS-VFFFIVVIFLGSFYLINLTLA397
CACNA1AGITQFDNILFAVLTVFQCITMEGWTDLLYN>S<NDASGNTWNWLYFIPLIIIGSFFMLNLVLG357
CACNA1BGITNFDNILFAILTVFQCITMEGWTDILYN>T<NDAAGNTWNWLYFIPLIIIGSFFMLNLVLG353
CACNA1CGITNFDNFAFAMLTVFQCITMEGWTDVLYW>V<NDAVGRDWPWIYFVTLIIIGSFFVLNLVLG402
CACNA1DGITNFDNFAFAMLTVFQCITMEGWTDVLYW>V<NDAIGWEWPWVYFVSLIILGSFFVLNLVLG403
CACNA1EGITQFDNILFAVLTVFQCITMEGWTTVLYN>T<NDALGATWNWLYFIPLIIIGSFFVLNLVLG348
CACNA1FGITNFDNFFFAMLTVFQCVTMEGWTDVLYW>M<QDAMGYELPWVYFVSLVIFGSFFVLNLVLG369
CACNA1GGAINFDNIGYAWIAIFQVITLEGWVDIMYF>V<MDAHSF-YNFIYFILLIIVGSFFMINLCLV392
CACNA1HGAINFDNIGYAWIAIFQVITLEGWVDIMYY>V<MDAHSF-YNFIYFILLIIVGSFFMINLCLV416
CACNA1IGAINFDNIGYAWIVIFQVITLEGWVEIMYY>V<MDAHSF-YNFIYFILLIIVGSFFMINLCLV395
CACNA1SGITHFDNFGFSMLTVYQCITMEGWTDVLYW>V<NDAIGNEWPWIYFVTLILLGSFFILNLVLG331
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 381 for SCN5A.