Paralogue Annotation for SCN5A residue 193

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 193
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 193

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW190RMyoclonic epilepsy of infancyHigh9 14738421, 24168886
SCN10AW189RBrugada syndromeHigh9 25842276

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.



SCN5AFTA-IYTFESLVKILARGFCLHAFTFLRDP>W<NWLDFSVIIMAYVSENIKLG----------213
SCN1AFTG-IYTFESLIKIIARGFCLEDFTFLRDP>W<NWLDFTVITFAYVTEFVDLG----------210
SCN2AFTG-IYTFESLIKILARGFCLEDFTFLRDP>W<NWLDFTVITFAYVTEFVDLG----------211
SCN3AFTG-IYTFESLIKILARGFCLEDFTFLRDP>W<NWLDFSVIVMAYVTEFVDLG----------210
SCN4AFTG-IYTFESLIKILARGFCVDDFTFLRDP>W<NWLDFSVIMMAYLTEFVDLG----------213
SCN7ALLG-IYTFEILVKLFARGVWAGSFSFLGDP>W<NWLDFSVTVFEVIIRYSPLD----------200
SCN8AFTG-IYTFESLVKIIARGFCIDGFTFLRDP>W<NWLDFSVIMMAYITEFVNLG----------214
SCN9AFTG-IYTFESLVKILARGFCVGEFTFLRDP>W<NWLDFVVIVFAYLTEFVNLG----------208
SCN10AFTV-IYTFEALIKILARGFCLNEFTYLRDP>W<NWLDFSVITLAYVGTAIDLR----------209
SCN11AFTG-IYIFEALIKILARGFILDEFSFLRDP>W<NWLDSIVIGIAIVSYIPGIT----------215
CACNA1AFIG-IFCFEAGIKIIALGFAFHKGSYLRNG>W<NVMDFVVVLTGILATVGTEF----------189
CACNA1BFIG-IFCFEAGIKIIALGFVFHKGSYLRNG>W<NVMDFVVVLTGILATAGTDF----------186
CACNA1CFLI-IFTVEAFLKVIAYGLLFHPNAYLRNG>W<NLLDFIIVVVGLFSAILEQATKA-DGANAL224
CACNA1DFLI-IFTVETFLKIIAYGLLLHPNAYVRNG>W<NLLDFVIVIVGLFSVILEQLTKETEGGNHS227
CACNA1EFIG-IFCFEAGIKIVALGFIFHKGSYLRNG>W<NVMDFIVVLSGILATAGTHFN---------181
CACNA1FFLV-IFTVETVLKIVAYGLVLHPSAYIRNG>W<NLLDFIIVVVGLFSVLLEQGPGRPGDAPHT193
CACNA1GFIFAFFAVEMVVKMVALGI-FGKKCYLGDT>W<NRLDFFIVIAGMLEYSLDLQ----------172
CACNA1HFIFAFFAVEMVIKMVALGL-FGQKCYLGDT>W<NRLDFFIVVAGMMEYSLDGH----------191
CACNA1IFIFIFFAMEMVLKMVALGI-FGKKCYLGDT>W<NRLDFFIVMAGMVEYSLDLQ----------170
CACNA1SFLI-VFSIEAAMKIIAYGFLFHQDAYLRSG>W<NVLDFTIVFLGVFTVILEQVNVIQSHTAPM152
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 193 for SCN5A.