Paralogue Annotation for SCN5A residue 364

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 364
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 364

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS374YDravet syndromeMedium9 27465585

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.



SCN5AC-PEGYRCLKAGENPDHGYTSFDSFAWAFL>A<LFRLMTQDCWERLYQQTLRSAGKIY-MIFF393
SCN1AC-PEGYMCVKAGRNPNYGYTSFDTFSWAFL>S<LFRLMTQDFWENLYQLTLRAAGKTY-MIFF403
SCN2AC-PEGYICVKAGRNPNYGYTSFDTFSWAFL>S<LFRLMTQDFWENLYQLTLRAAGKTY-MIFF405
SCN3AC-PEGYICVKAGRNPNYGYTSFDTFSWAFL>S<LFRLMTQDYWENLYQLTLRAAGKTY-MIFF404
SCN4AC-PEGYECIKTGRNPNYGYTSYDTFSWAFL>A<LFRLMTQDYWENLFQLTLRAAGKTY-MIFF427
SCN7AC-PEGYVCVKAGINPDQGFTNFDSFGWALF>A<LFRLMAQDYPEVLYHQILYASGKVY-MIFF374
SCN8AC-PEGYQCMKAGRNPNYGYTSFDTFSWAFL>A<LFRLMTQDYWENLYQLTLRAAGKTY-MIFF391
SCN9AC-PEGYTCVKIGRNPDYGYTSFDTFSWAFL>A<LFRLMTQDYWENLYQQTLRAAGKTY-MIFF382
SCN10AC-PDGYICLKTSDNPDFNYTSFDSFAWAFL>S<LFRLMTQDSWERLYQQTLRTSGKIY-MIFF377
SCN11AC-SIQYECKHTKINPDYNYTNFDNFGWSFL>A<MFRLMTQDSWEKLYQQTLRTTGLYS-VFFF380
CACNA1AC-PNGTKCQPYWEGPNNGITQFDNILFAVL>T<VFQCITMEGWTDLLYNSNDASGNTWNWLYF340
CACNA1BC-EGDTECREYWPGPNFGITNFDNILFAIL>T<VFQCITMEGWTDILYNTNDAAGNTWNWLYF336
CACNA1CCQN-GTVCKPGWDGPKHGITNFDNFAFAML>T<VFQCITMEGWTDVLYWVNDAVGRDWPWIYF385
CACNA1DCTANGTECRSGWVGPNGGITNFDNFAFAML>T<VFQCITMEGWTDVLYWVNDAIGWEWPWVYF386
CACNA1EC-PAGYEC-KDWIGPNDGITQFDNILFAVL>T<VFQCITMEGWTTVLYNTNDALGATWNWLYF331
CACNA1FCTLNQTECRGRWPGPNGGITNFDNFFFAML>T<VFQCVTMEGWTDVLYWMQDAMGYELPWVYF352
CACNA1GWNQYYTNCSAGEHNPFKGAINFDNIGYAWI>A<IFQVITLEGWVDIMYFVMDAHSF-YNFIYF375
CACNA1HWNQYYNVCRSGDSNPHNGAINFDNIGYAWI>A<IFQVITLEGWVDIMYYVMDAHSF-YNFIYF399
CACNA1IWNRYYNVCRTGSANPHKGAINFDNIGYAWI>V<IFQVITLEGWVEIMYYVMDAHSF-YNFIYF378
CACNA1SCTINGSECRGGWPGPNHGITHFDNFGFSML>T<VYQCITMEGWTDVLYWVNDAIGNEWPWIYF314
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 364 for SCN5A.