Paralogue Annotation for SCN5A residue 194

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 194
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 194

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN191KDravet syndromeHigh9 18930999
SCN1AN191YDravet syndromeHigh9 18930999, 20522430

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.



SCN5ATA-IYTFESLVKILARGFCLHAFTFLRDPW>N<WLDFSVIIMAYVSENIKLG-----------213
SCN1ATG-IYTFESLIKIIARGFCLEDFTFLRDPW>N<WLDFTVITFAYVTEFVDLG-----------210
SCN2ATG-IYTFESLIKILARGFCLEDFTFLRDPW>N<WLDFTVITFAYVTEFVDLG-----------211
SCN3ATG-IYTFESLIKILARGFCLEDFTFLRDPW>N<WLDFSVIVMAYVTEFVDLG-----------210
SCN4ATG-IYTFESLIKILARGFCVDDFTFLRDPW>N<WLDFSVIMMAYLTEFVDLG-----------213
SCN7ALG-IYTFEILVKLFARGVWAGSFSFLGDPW>N<WLDFSVTVFEVIIRYSPLD-----------200
SCN8ATG-IYTFESLVKIIARGFCIDGFTFLRDPW>N<WLDFSVIMMAYITEFVNLG-----------214
SCN9ATG-IYTFESLVKILARGFCVGEFTFLRDPW>N<WLDFVVIVFAYLTEFVNLG-----------208
SCN10ATV-IYTFEALIKILARGFCLNEFTYLRDPW>N<WLDFSVITLAYVGTAIDLR-----------209
SCN11ATG-IYIFEALIKILARGFILDEFSFLRDPW>N<WLDSIVIGIAIVSYIPGIT-----------215
CACNA1AIG-IFCFEAGIKIIALGFAFHKGSYLRNGW>N<VMDFVVVLTGILATVGTEF-----------189
CACNA1BIG-IFCFEAGIKIIALGFVFHKGSYLRNGW>N<VMDFVVVLTGILATAGTDF-----------186
CACNA1CLI-IFTVEAFLKVIAYGLLFHPNAYLRNGW>N<LLDFIIVVVGLFSAILEQATKA-DGANALG225
CACNA1DLI-IFTVETFLKIIAYGLLLHPNAYVRNGW>N<LLDFVIVIVGLFSVILEQLTKETEGGNHSS228
CACNA1EIG-IFCFEAGIKIVALGFIFHKGSYLRNGW>N<VMDFIVVLSGILATAGTHFN----------181
CACNA1FLV-IFTVETVLKIVAYGLVLHPSAYIRNGW>N<LLDFIIVVVGLFSVLLEQGPGRPGDAPHTG194
CACNA1GIFAFFAVEMVVKMVALGI-FGKKCYLGDTW>N<RLDFFIVIAGMLEYSLDLQ-----------172
CACNA1HIFAFFAVEMVIKMVALGL-FGQKCYLGDTW>N<RLDFFIVVAGMMEYSLDGH-----------191
CACNA1IIFIFFAMEMVLKMVALGI-FGKKCYLGDTW>N<RLDFFIVMAGMVEYSLDLQ-----------170
CACNA1SLI-VFSIEAAMKIIAYGFLFHQDAYLRSGW>N<VLDFTIVFLGVFTVILEQVNVIQSHTAPMS153
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 194 for SCN5A.