Paralogue Annotation for SCN5A residue 210

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 210
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 210

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AV208EInfantile seizures, benignHigh7 22612257
SCN10AI206MBrugada syndromeMedium7 24998131

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.



SCN5AGFCLHAFTFLRDPWNWLDFSVIIMAYVSEN>I<KLG-----------------NLSALRTFRV223
SCN1AGFCLEDFTFLRDPWNWLDFTVITFAYVTEF>V<DLG-----------------NVSALRTFRV220
SCN2AGFCLEDFTFLRDPWNWLDFTVITFAYVTEF>V<DLG-----------------NVSALRTFRV221
SCN3AGFCLEDFTFLRDPWNWLDFSVIVMAYVTEF>V<DLG-----------------NVSALRTFRV220
SCN4AGFCVDDFTFLRDPWNWLDFSVIMMAYLTEF>V<DLG-----------------NISALRTFRV223
SCN7AGVWAGSFSFLGDPWNWLDFSVTVFEVIIRY>S<PLD-----------------FIPTLQTART210
SCN8AGFCIDGFTFLRDPWNWLDFSVIMMAYITEF>V<NLG-----------------NVSALRTFRV224
SCN9AGFCVGEFTFLRDPWNWLDFVVIVFAYLTEF>V<NLG-----------------NVSALRTFRV218
SCN10AGFCLNEFTYLRDPWNWLDFSVITLAYVGTA>I<DLR-----------------GISGLRTFRV219
SCN11AGFILDEFSFLRDPWNWLDSIVIGIAIVSYI>P<GIT----------------IKLLPLRTFRV226
CACNA1AGFAFHKGSYLRNGWNVMDFVVVLTGILATV>G<TEF-----------------DLRTLRAVRV199
CACNA1BGFVFHKGSYLRNGWNVMDFVVVLTGILATA>G<TDF-----------------DLRTLRAVRV196
CACNA1CGLLFHPNAYLRNGWNLLDFIIVVVGLFSAI>L<EQATKA-DGANALGGKGAGFDVKALRAFRV241
CACNA1DGLLLHPNAYVRNGWNLLDFVIVIVGLFSVI>L<EQLTKETEGGNHSSGKSGGFDVKALRAFRV244
CACNA1EGFIFHKGSYLRNGWNVMDFIVVLSGILATA>G<THFN-------------THVDLRTLRAVRV194
CACNA1FGLVLHPSAYIRNGWNLLDFIIVVVGLFSVL>L<EQGPGRPGDAPHTGGKPGGFDVKALRAFRV210
CACNA1GGI-FGKKCYLGDTWNRLDFFIVIAGMLEYS>L<DLQ---------------NVSFSAVRTVRV184
CACNA1HGL-FGQKCYLGDTWNRLDFFIVVAGMMEYS>L<DGH---------------NVSLSAIRTVRV203
CACNA1IGI-FGKKCYLGDTWNRLDFFIVMAGMVEYS>L<DLQ---------------NINLSAIRTVRV182
CACNA1SGFLFHQDAYLRSGWNVLDFTIVFLGVFTVI>L<EQVNVIQSHTAPMSSKGAGLDVKALRAFRV169
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 210 for SCN5A.