Paralogue Annotation for SCN5A residue 398

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 398
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 398

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF408LEpilepsy, idiopathic High9 21703448

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.



SCN5AMTQDCWERLYQQTLRSAGKIY-MIFFMLVI>F<LGSFYLVNLILAVVAMAYEEQNQATIAETE428
SCN1AMTQDFWENLYQLTLRAAGKTY-MIFFVLVI>F<LGSFYLINLILAVVAMAYEEQNQATLEEAE438
SCN2AMTQDFWENLYQLTLRAAGKTY-MIFFVLVI>F<LGSFYLINLILAVVAMAYEEQNQATLEEAE440
SCN3AMTQDYWENLYQLTLRAAGKTY-MIFFVLVI>F<LGSFYLVNLILAVVAMAYEEQNQATLEEAE439
SCN4AMTQDYWENLFQLTLRAAGKTY-MIFFVVII>F<LGSFYLINLILAVVAMAYAEQNEATLAEDK462
SCN7AMAQDYPEVLYHQILYASGKVY-MIFFVVVS>F<LFSFYMASLFLGILAMAYEEEKQRVGEISK409
SCN8AMTQDYWENLYQLTLRAAGKTY-MIFFVLVI>F<VGSFYLVNLILAVVAMAYEEQNQATLEEAE426
SCN9AMTQDYWENLYQQTLRAAGKTY-MIFFVVVI>F<LGSFYLINLILAVVAMAYEEQNQANIEEAK417
SCN10AMTQDSWERLYQQTLRTSGKIY-MIFFVLVI>F<LGSFYLVNLILAVVTMAYEEQNQATTDEIE412
SCN11AMTQDSWEKLYQQTLRTTGLYS-VFFFIVVI>F<LGSFYLINLTLAVVTMAYEEQNKNVAAEIE415
CACNA1AITMEGWTDLLYNSNDASGNTWNWLYFIPLI>I<IGSFFMLNLVLGVLSGEFAKERERVENRRA375
CACNA1BITMEGWTDILYNTNDAAGNTWNWLYFIPLI>I<IGSFFMLNLVLGVLSGEFAKERERVENRRA371
CACNA1CITMEGWTDVLYWVNDAVGRDWPWIYFVTLI>I<IGSFFVLNLVLGVLSGEFSKEREKAKARGD420
CACNA1DITMEGWTDVLYWVNDAIGWEWPWVYFVSLI>I<LGSFFVLNLVLGVLSGEFSKEREKAKARGD421
CACNA1EITMEGWTTVLYNTNDALGATWNWLYFIPLI>I<IGSFFVLNLVLGVLSGEFAKERERVENRRA366
CACNA1FVTMEGWTDVLYWMQDAMGYELPWVYFVSLV>I<FGSFFVLNLVLGVLSGEFSKEREKAKARGD387
CACNA1GITLEGWVDIMYFVMDAHSF-YNFIYFILLI>I<VGSFFMINLCLVVIATQFSETKQRESQLMR410
CACNA1HITLEGWVDIMYYVMDAHSF-YNFIYFILLI>I<VGSFFMINLCLVVIATQFSETKQRESQLMR434
CACNA1IITLEGWVEIMYYVMDAHSF-YNFIYFILLI>I<VGSFFMINLCLVVIATQFSETKQREHRLML413
CACNA1SITMEGWTDVLYWVNDAIGNEWPWIYFVTLI>L<LGSFFILNLVLGVLSGEFTKEREKAKSRGT349
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 398 for SCN5A.