Paralogue Annotation for SCN5A residue 1383

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1383
Reference Amino Acid: Q - Glutamine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1383

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1395YMyoclonic epilepsy of infancyMedium4 21114141
CACNA1SD979GSchizophreniaMedium4 24463507

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.



SCN5ALFAGKFGRCINQTEGDL-P-LNYTIVNNKS>Q<CESLNLTGE--LYWTKVKVNFDNVGAGYLA1411
SCN1ALFAGKFYHCINTTTGDR---FDIEDVNNHT>D<CLKLIERNET-ARWKNVKVNFDNVGFGYLS1424
SCN2ALFAGKFYHCINYTTGEM---FDVSVVNNYS>E<CKALIESNQT-ARWKNVKVNFDNVGLGYLS1414
SCN3ALFAGKFYHCVNMTTGNM---FDISDVNNLS>D<CQALGK--Q--ARWKNVKVNFDNVGAGYLA1409
SCN4ALFAGKFYYCINTTTSER---FDISEVNNKS>E<CESLMHTGQ--VRWLNVKVNYDNVGLGYLS1236
SCN7ALFAGRFYECIDPTSGER---FPSSEVMNKS>R<CESLLFNES--MLWENAKMNFDNVGNGFLS1134
SCN8ALFAGKYHYCFNETSEIR---FEIEDVNNKT>E<CEKLMEGNNTEIRWKNVKINFDNVGAGYLA1405
SCN9ALFAGKFYECINTTDGSR---FPASQVPNRS>E<CFALMNVSQN-VRWKNLKVNFDNVGLGYLS1387
SCN10ALFAGKFWRCINYTDGEF-SLVPLSIVNNKS>D<CKIQNSTGS--FFWVNVKVNFDNVAMGYLA1359
SCN11AFFSGKFGKCINGTDSVI----NYTIITNKS>Q<CESGN------FSWINQKVNFDNVGNAYLA1249
CACNA1ALFKGKFFHCTDESKEFEKDCRGKYLLYEKN>E<VK----AR--DREWKKYEFHYDNVLWALLT1452
CACNA1BLFKGKFFYCTDESKELERDCRGQYLDYEKE>E<VE----AQ--PRQWKKYDFHYDNVLWALLT1358
CACNA1CLFKGKLYTCSDSSKQTEAECKGNYITYKDG>E<VDHP-IIQ--PRSWENSKFDFDNVLAAMMA1107
CACNA1DLFKGKFYRCTDEAKSNPEECRGLFILYKDG>D<VDSP-VVR--ERIWQNSDFNFDNVLSAMMA1113
CACNA1ELFKGKFFYCTDSSKDTEKECIGNYVDHEKN>K<ME----VK--GREWKRHEFHYDNIIWALLT1364
CACNA1FLFKGKFYTCTDEAKHTPQECKGSFLVYPDG>D<VSRP-LVR--ERLWVNSDFNFDNVLSAMMA1078
CACNA1GLFKGKFFVCQGED---------TRNITNKS>D<CA----EA--SYRWVRHKYNFDNLGQALMS1478
CACNA1HLFKGKFYYCEGPD---------TRNISTKA>Q<CR----AA--HYRWVRRKYNFDNLGQALMS1496
CACNA1ILFKGKFYHCLGVD---------TRNITNRS>D<CM----AA--NYRWVHHKYNFDNLGQALMS1372
CACNA1SLFKGKFFRCTDLSKMTEEECRGYYYVYKDG>D<PMQI-ELR--HREWVHSDFHFDNVLSAMMS1006
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1383 for SCN5A.