Paralogue Annotation for SCN5A residue 1395

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1395
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1395

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AW1436REpileptic encephalopathy, early onset with progresHigh9 27250579

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.



SCN5AGDL-P-LNYTIVNNKSQCESLNLTGE--LY>W<TKVKVNFDNVGAGYLALLQVATFKGWMDIM1425
SCN1AGDR---FDIEDVNNHTDCLKLIERNET-AR>W<KNVKVNFDNVGFGYLSLLQVATFKGWMDIM1438
SCN2AGEM---FDVSVVNNYSECKALIESNQT-AR>W<KNVKVNFDNVGLGYLSLLQVATFKGWMDIM1428
SCN3AGNM---FDISDVNNLSDCQALGK--Q--AR>W<KNVKVNFDNVGAGYLALLQVATFKGWMDIM1423
SCN4ASER---FDISEVNNKSECESLMHTGQ--VR>W<LNVKVNYDNVGLGYLSLLQVATFKGWMDIM1250
SCN7AGER---FPSSEVMNKSRCESLLFNES--ML>W<ENAKMNFDNVGNGFLSLLQVATFNGWITIM1148
SCN8AEIR---FEIEDVNNKTECEKLMEGNNTEIR>W<KNVKINFDNVGAGYLALLQVATFKGWMDIM1419
SCN9AGSR---FPASQVPNRSECFALMNVSQN-VR>W<KNLKVNFDNVGLGYLSLLQVATFKGWTIIM1401
SCN10AGEF-SLVPLSIVNNKSDCKIQNSTGS--FF>W<VNVKVNFDNVAMGYLALLQVATFKGWMDIM1373
SCN11ASVI----NYTIITNKSQCESGN------FS>W<INQKVNFDNVGNAYLALLQVATFKGWMDII1263
CACNA1AEFEKDCRGKYLLYEKNEVK----AR--DRE>W<KKYEFHYDNVLWALLTLFTVSTGEGWPQVL1466
CACNA1BELERDCRGQYLDYEKEEVE----AQ--PRQ>W<KKYDFHYDNVLWALLTLFTVSTGEGWPMVL1372
CACNA1CQTEAECKGNYITYKDGEVDHP-IIQ--PRS>W<ENSKFDFDNVLAAMMALFTVSTFEGWPELL1121
CACNA1DSNPEECRGLFILYKDGDVDSP-VVR--ERI>W<QNSDFNFDNVLSAMMALFTVSTFEGWPALL1127
CACNA1EDTEKECIGNYVDHEKNKME----VK--GRE>W<KRHEFHYDNIIWALLTLFTVSTGEGWPQVL1378
CACNA1FHTPQECKGSFLVYPDGDVSRP-LVR--ERL>W<VNSDFNFDNVLSAMMALFTVSTFEGWPALL1092
CACNA1G--------TRNITNKSDCA----EA--SYR>W<VRHKYNFDNLGQALMSLFVLASKDGWVDIM1492
CACNA1H--------TRNISTKAQCR----AA--HYR>W<VRRKYNFDNLGQALMSLFVLSSKDGWVNIM1510
CACNA1I--------TRNITNRSDCM----AA--NYR>W<VHHKYNFDNLGQALMSLFVLASKDGWVNIM1386
CACNA1SMTEEECRGYYYVYKDGDPMQI-ELR--HRE>W<VHSDFHFDNVLSAMMSLFTVSTFEGWPQLL1020
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1395 for SCN5A.