Paralogue Annotation for SCN5A residue 1379

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1379
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1379

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1391SDravet syndromeHigh5 18930999

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.



SCN5AMGVNLFAGKFGRCINQTEGDL-P-LNYTIV>N<NKSQCESLNLTGE--LYWTKVKVNFDNVGA1407
SCN1AMGVNLFAGKFYHCINTTTGDR---FDIEDV>N<NHTDCLKLIERNET-ARWKNVKVNFDNVGF1420
SCN2AMGVNLFAGKFYHCINYTTGEM---FDVSVV>N<NYSECKALIESNQT-ARWKNVKVNFDNVGL1410
SCN3AMGVNLFAGKFYHCVNMTTGNM---FDISDV>N<NLSDCQALGK--Q--ARWKNVKVNFDNVGA1405
SCN4AMGVNLFAGKFYYCINTTTSER---FDISEV>N<NKSECESLMHTGQ--VRWLNVKVNYDNVGL1232
SCN7AMGVDLFAGRFYECIDPTSGER---FPSSEV>M<NKSRCESLLFNES--MLWENAKMNFDNVGN1130
SCN8AMGVNLFAGKYHYCFNETSEIR---FEIEDV>N<NKTECEKLMEGNNTEIRWKNVKINFDNVGA1401
SCN9AMGVNLFAGKFYECINTTDGSR---FPASQV>P<NRSECFALMNVSQN-VRWKNLKVNFDNVGL1383
SCN10AMGVNLFAGKFWRCINYTDGEF-SLVPLSIV>N<NKSDCKIQNSTGS--FFWVNVKVNFDNVAM1355
SCN11ALGVYFFSGKFGKCINGTDSVI----NYTII>T<NKSQCESGN------FSWINQKVNFDNVGN1245
CACNA1AVAVQLFKGKFFHCTDESKEFEKDCRGKYLL>Y<EKNEVK----AR--DREWKKYEFHYDNVLW1448
CACNA1BIAVQLFKGKFFYCTDESKELERDCRGQYLD>Y<EKEEVE----AQ--PRQWKKYDFHYDNVLW1354
CACNA1CIGVQLFKGKLYTCSDSSKQTEAECKGNYIT>Y<KDGEVDHP-IIQ--PRSWENSKFDFDNVLA1103
CACNA1DIGVQLFKGKFYRCTDEAKSNPEECRGLFIL>Y<KDGDVDSP-VVR--ERIWQNSDFNFDNVLS1109
CACNA1EIAVQLFKGKFFYCTDSSKDTEKECIGNYVD>H<EKNKME----VK--GREWKRHEFHYDNIIW1360
CACNA1FIGVQLFKGKFYTCTDEAKHTPQECKGSFLV>Y<PDGDVSRP-LVR--ERLWVNSDFNFDNVLS1074
CACNA1GLGVQLFKGKFFVCQGED---------TRNI>T<NKSDCA----EA--SYRWVRHKYNFDNLGQ1474
CACNA1HLGVQLFKGKFYYCEGPD---------TRNI>S<TKAQCR----AA--HYRWVRRKYNFDNLGQ1492
CACNA1ILGVQLFKGKFYHCLGVD---------TRNI>T<NRSDCM----AA--NYRWVHHKYNFDNLGQ1368
CACNA1SIGVQLFKGKFFRCTDLSKMTEEECRGYYYV>Y<KDGDPMQI-ELR--HREWVHSDFHFDNVLS1002
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1379 for SCN5A.