Paralogue Annotation for SCN5A residue 1392

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1392
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1392

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1404AMyoclonic epilepsy of infancyMedium3 17129991

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.



SCN5AINQTEGDL-P-LNYTIVNNKSQCESLNLTG>E<--LYWTKVKVNFDNVGAGYLALLQVATFKG1420
SCN1AINTTTGDR---FDIEDVNNHTDCLKLIERN>E<T-ARWKNVKVNFDNVGFGYLSLLQVATFKG1433
SCN2AINYTTGEM---FDVSVVNNYSECKALIESN>Q<T-ARWKNVKVNFDNVGLGYLSLLQVATFKG1423
SCN3AVNMTTGNM---FDISDVNNLSDCQALGK-->Q<--ARWKNVKVNFDNVGAGYLALLQVATFKG1418
SCN4AINTTTSER---FDISEVNNKSECESLMHTG>Q<--VRWLNVKVNYDNVGLGYLSLLQVATFKG1245
SCN7AIDPTSGER---FPSSEVMNKSRCESLLFNE>S<--MLWENAKMNFDNVGNGFLSLLQVATFNG1143
SCN8AFNETSEIR---FEIEDVNNKTECEKLMEGN>N<TEIRWKNVKINFDNVGAGYLALLQVATFKG1414
SCN9AINTTDGSR---FPASQVPNRSECFALMNVS>Q<N-VRWKNLKVNFDNVGLGYLSLLQVATFKG1396
SCN10AINYTDGEF-SLVPLSIVNNKSDCKIQNSTG>S<--FFWVNVKVNFDNVAMGYLALLQVATFKG1368
SCN11AINGTDSVI----NYTIITNKSQCESGN--->-<--FSWINQKVNFDNVGNAYLALLQVATFKG1258
CACNA1ATDESKEFEKDCRGKYLLYEKNEVK----AR>-<-DREWKKYEFHYDNVLWALLTLFTVSTGEG1461
CACNA1BTDESKELERDCRGQYLDYEKEEVE----AQ>-<-PRQWKKYDFHYDNVLWALLTLFTVSTGEG1367
CACNA1CSDSSKQTEAECKGNYITYKDGEVDHP-IIQ>-<-PRSWENSKFDFDNVLAAMMALFTVSTFEG1116
CACNA1DTDEAKSNPEECRGLFILYKDGDVDSP-VVR>-<-ERIWQNSDFNFDNVLSAMMALFTVSTFEG1122
CACNA1ETDSSKDTEKECIGNYVDHEKNKME----VK>-<-GREWKRHEFHYDNIIWALLTLFTVSTGEG1373
CACNA1FTDEAKHTPQECKGSFLVYPDGDVSRP-LVR>-<-ERLWVNSDFNFDNVLSAMMALFTVSTFEG1087
CACNA1GQGED---------TRNITNKSDCA----EA>-<-SYRWVRHKYNFDNLGQALMSLFVLASKDG1487
CACNA1HEGPD---------TRNISTKAQCR----AA>-<-HYRWVRRKYNFDNLGQALMSLFVLSSKDG1505
CACNA1ILGVD---------TRNITNRSDCM----AA>-<-NYRWVHHKYNFDNLGQALMSLFVLASKDG1381
CACNA1STDLSKMTEEECRGYYYVYKDGDPMQI-ELR>-<-HREWVHSDFHFDNVLSAMMSLFTVSTFEG1015
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1392 for SCN5A.