Paralogue Annotation for SCN5A residue 209

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 209
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 209

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AF210LEpileptic encephalopathyHigh6 25818041

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.



SCN5ARGFCLHAFTFLRDPWNWLDFSVIIMAYVSE>N<IKLG-----------------NLSALRTFR222
SCN1ARGFCLEDFTFLRDPWNWLDFTVITFAYVTE>F<VDLG-----------------NVSALRTFR219
SCN2ARGFCLEDFTFLRDPWNWLDFTVITFAYVTE>F<VDLG-----------------NVSALRTFR220
SCN3ARGFCLEDFTFLRDPWNWLDFSVIVMAYVTE>F<VDLG-----------------NVSALRTFR219
SCN4ARGFCVDDFTFLRDPWNWLDFSVIMMAYLTE>F<VDLG-----------------NISALRTFR222
SCN7ARGVWAGSFSFLGDPWNWLDFSVTVFEVIIR>Y<SPLD-----------------FIPTLQTAR209
SCN8ARGFCIDGFTFLRDPWNWLDFSVIMMAYITE>F<VNLG-----------------NVSALRTFR223
SCN9ARGFCVGEFTFLRDPWNWLDFVVIVFAYLTE>F<VNLG-----------------NVSALRTFR217
SCN10ARGFCLNEFTYLRDPWNWLDFSVITLAYVGT>A<IDLR-----------------GISGLRTFR218
SCN11ARGFILDEFSFLRDPWNWLDSIVIGIAIVSY>I<PGIT----------------IKLLPLRTFR225
CACNA1ALGFAFHKGSYLRNGWNVMDFVVVLTGILAT>V<GTEF-----------------DLRTLRAVR198
CACNA1BLGFVFHKGSYLRNGWNVMDFVVVLTGILAT>A<GTDF-----------------DLRTLRAVR195
CACNA1CYGLLFHPNAYLRNGWNLLDFIIVVVGLFSA>I<LEQATKA-DGANALGGKGAGFDVKALRAFR240
CACNA1DYGLLLHPNAYVRNGWNLLDFVIVIVGLFSV>I<LEQLTKETEGGNHSSGKSGGFDVKALRAFR243
CACNA1ELGFIFHKGSYLRNGWNVMDFIVVLSGILAT>A<GTHFN-------------THVDLRTLRAVR193
CACNA1FYGLVLHPSAYIRNGWNLLDFIIVVVGLFSV>L<LEQGPGRPGDAPHTGGKPGGFDVKALRAFR209
CACNA1GLGI-FGKKCYLGDTWNRLDFFIVIAGMLEY>S<LDLQ---------------NVSFSAVRTVR183
CACNA1HLGL-FGQKCYLGDTWNRLDFFIVVAGMMEY>S<LDGH---------------NVSLSAIRTVR202
CACNA1ILGI-FGKKCYLGDTWNRLDFFIVMAGMVEY>S<LDLQ---------------NINLSAIRTVR181
CACNA1SYGFLFHQDAYLRSGWNVLDFTIVFLGVFTV>I<LEQVNVIQSHTAPMSSKGAGLDVKALRAFR168
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 209 for SCN5A.