Paralogue Annotation for SCN5A residue 1373

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1373
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1373

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1385VMyoclonic epilepsy of infancyMedium4 23195492

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.



SCN5AWLIFSIMGVNLFAGKFGRCINQTEGDL-P->L<NYTIVNNKSQCESLNLTGE--LYWTKVKVN1401
SCN1AWLIFSIMGVNLFAGKFYHCINTTTGDR--->F<DIEDVNNHTDCLKLIERNET-ARWKNVKVN1414
SCN2AWLIFSIMGVNLFAGKFYHCINYTTGEM--->F<DVSVVNNYSECKALIESNQT-ARWKNVKVN1404
SCN3AWLIFSIMGVNLFAGKFYHCVNMTTGNM--->F<DISDVNNLSDCQALGK--Q--ARWKNVKVN1399
SCN4AWLIFSIMGVNLFAGKFYYCINTTTSER--->F<DISEVNNKSECESLMHTGQ--VRWLNVKVN1226
SCN7AWLIFSIMGVDLFAGRFYECIDPTSGER--->F<PSSEVMNKSRCESLLFNES--MLWENAKMN1124
SCN8AWLIFSIMGVNLFAGKYHYCFNETSEIR--->F<EIEDVNNKTECEKLMEGNNTEIRWKNVKIN1395
SCN9AWLIFSIMGVNLFAGKFYECINTTDGSR--->F<PASQVPNRSECFALMNVSQN-VRWKNLKVN1377
SCN10AWLIFSIMGVNLFAGKFWRCINYTDGEF-SL>V<PLSIVNNKSDCKIQNSTGS--FFWVNVKVN1349
SCN11AWLVFCILGVYFFSGKFGKCINGTDSVI--->-<NYTIITNKSQCESGN------FSWINQKVN1239
CACNA1AMFIFAVVAVQLFKGKFFHCTDESKEFEKDC>R<GKYLLYEKNEVK----AR--DREWKKYEFH1442
CACNA1BMFIFAVIAVQLFKGKFFYCTDESKELERDC>R<GQYLDYEKEEVE----AQ--PRQWKKYDFH1348
CACNA1CQFMFACIGVQLFKGKLYTCSDSSKQTEAEC>K<GNYITYKDGEVDHP-IIQ--PRSWENSKFD1097
CACNA1DQFMFACIGVQLFKGKFYRCTDEAKSNPEEC>R<GLFILYKDGDVDSP-VVR--ERIWQNSDFN1103
CACNA1EMFIFAVIAVQLFKGKFFYCTDSSKDTEKEC>I<GNYVDHEKNKME----VK--GREWKRHEFH1354
CACNA1FQFMFACIGVQLFKGKFYTCTDEAKHTPQEC>K<GSFLVYPDGDVSRP-LVR--ERLWVNSDFN1068
CACNA1GFIIFGILGVQLFKGKFFVCQGED------->-<-TRNITNKSDCA----EA--SYRWVRHKYN1468
CACNA1HFIIFGILGVQLFKGKFYYCEGPD------->-<-TRNISTKAQCR----AA--HYRWVRRKYN1486
CACNA1IFIIFGILGVQLFKGKFYHCLGVD------->-<-TRNITNRSDCM----AA--NYRWVHHKYN1362
CACNA1SQFMFACIGVQLFKGKFFRCTDLSKMTEEEC>R<GYYYVYKDGDPMQI-ELR--HREWVHSDFH996
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1373 for SCN5A.