Paralogue Annotation for SCN5A residue 197

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 197
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 197

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD194NMyoclonic epilepsy of infancyHigh9 17054684, 20562086
SCN1AD194GDravet syndromeHigh9 18930999
SCN1AD194HDravet syndrome C ?High9 21248271
SCN1AD194ADravet syndromeHigh9 25459968

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.



SCN5AIYTFESLVKILARGFCLHAFTFLRDPWNWL>D<FSVIIMAYVSENIKLG--------------213
SCN1AIYTFESLIKIIARGFCLEDFTFLRDPWNWL>D<FTVITFAYVTEFVDLG--------------210
SCN2AIYTFESLIKILARGFCLEDFTFLRDPWNWL>D<FTVITFAYVTEFVDLG--------------211
SCN3AIYTFESLIKILARGFCLEDFTFLRDPWNWL>D<FSVIVMAYVTEFVDLG--------------210
SCN4AIYTFESLIKILARGFCVDDFTFLRDPWNWL>D<FSVIMMAYLTEFVDLG--------------213
SCN7AIYTFEILVKLFARGVWAGSFSFLGDPWNWL>D<FSVTVFEVIIRYSPLD--------------200
SCN8AIYTFESLVKIIARGFCIDGFTFLRDPWNWL>D<FSVIMMAYITEFVNLG--------------214
SCN9AIYTFESLVKILARGFCVGEFTFLRDPWNWL>D<FVVIVFAYLTEFVNLG--------------208
SCN10AIYTFEALIKILARGFCLNEFTYLRDPWNWL>D<FSVITLAYVGTAIDLR--------------209
SCN11AIYIFEALIKILARGFILDEFSFLRDPWNWL>D<SIVIGIAIVSYIPGIT--------------215
CACNA1AIFCFEAGIKIIALGFAFHKGSYLRNGWNVM>D<FVVVLTGILATVGTEF--------------189
CACNA1BIFCFEAGIKIIALGFVFHKGSYLRNGWNVM>D<FVVVLTGILATAGTDF--------------186
CACNA1CIFTVEAFLKVIAYGLLFHPNAYLRNGWNLL>D<FIIVVVGLFSAILEQATKA-DGANALGGKG228
CACNA1DIFTVETFLKIIAYGLLLHPNAYVRNGWNLL>D<FVIVIVGLFSVILEQLTKETEGGNHSSGKS231
CACNA1EIFCFEAGIKIVALGFIFHKGSYLRNGWNVM>D<FIVVLSGILATAGTHFN-------------181
CACNA1FIFTVETVLKIVAYGLVLHPSAYIRNGWNLL>D<FIIVVVGLFSVLLEQGPGRPGDAPHTGGKP197
CACNA1GFFAVEMVVKMVALGI-FGKKCYLGDTWNRL>D<FFIVIAGMLEYSLDLQ--------------172
CACNA1HFFAVEMVIKMVALGL-FGQKCYLGDTWNRL>D<FFIVVAGMMEYSLDGH--------------191
CACNA1IFFAMEMVLKMVALGI-FGKKCYLGDTWNRL>D<FFIVMAGMVEYSLDLQ--------------170
CACNA1SVFSIEAAMKIIAYGFLFHQDAYLRSGWNVL>D<FTIVFLGVFTVILEQVNVIQSHTAPMSSKG156
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Asp197Tyrc.589G>T UnknownSIFT:
Polyphen: