Paralogue Annotation for SCN5A residue 213

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 213
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 213

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AG211DWest syndrome with hypotoniaHigh5 23662938
SCN8AG214DInfantile spasmsHigh5 23934111

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.



SCN5ALHAFTFLRDPWNWLDFSVIIMAYVSENIKL>G<-----------------NLSALRTFRVLRA226
SCN1ALEDFTFLRDPWNWLDFTVITFAYVTEFVDL>G<-----------------NVSALRTFRVLRA223
SCN2ALEDFTFLRDPWNWLDFTVITFAYVTEFVDL>G<-----------------NVSALRTFRVLRA224
SCN3ALEDFTFLRDPWNWLDFSVIVMAYVTEFVDL>G<-----------------NVSALRTFRVLRA223
SCN4AVDDFTFLRDPWNWLDFSVIMMAYLTEFVDL>G<-----------------NISALRTFRVLRA226
SCN7AAGSFSFLGDPWNWLDFSVTVFEVIIRYSPL>D<-----------------FIPTLQTARTLRI213
SCN8AIDGFTFLRDPWNWLDFSVIMMAYITEFVNL>G<-----------------NVSALRTFRVLRA227
SCN9AVGEFTFLRDPWNWLDFVVIVFAYLTEFVNL>G<-----------------NVSALRTFRVLRA221
SCN10ALNEFTYLRDPWNWLDFSVITLAYVGTAIDL>R<-----------------GISGLRTFRVLRA222
SCN11ALDEFSFLRDPWNWLDSIVIGIAIVSYIPGI>T<----------------IKLLPLRTFRVFRA229
CACNA1AFHKGSYLRNGWNVMDFVVVLTGILATVGTE>F<-----------------DLRTLRAVRVLRP202
CACNA1BFHKGSYLRNGWNVMDFVVVLTGILATAGTD>F<-----------------DLRTLRAVRVLRP199
CACNA1CFHPNAYLRNGWNLLDFIIVVVGLFSAILEQ>A<TKA-DGANALGGKGAGFDVKALRAFRVLRP244
CACNA1DLHPNAYVRNGWNLLDFVIVIVGLFSVILEQ>L<TKETEGGNHSSGKSGGFDVKALRAFRVLRP247
CACNA1EFHKGSYLRNGWNVMDFIVVLSGILATAGTH>F<N-------------THVDLRTLRAVRVLRP197
CACNA1FLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQ>G<PGRPGDAPHTGGKPGGFDVKALRAFRVLRP213
CACNA1GFGKKCYLGDTWNRLDFFIVIAGMLEYSLDL>Q<---------------NVSFSAVRTVRVLRP187
CACNA1HFGQKCYLGDTWNRLDFFIVVAGMMEYSLDG>H<---------------NVSLSAIRTVRVLRP206
CACNA1IFGKKCYLGDTWNRLDFFIVMAGMVEYSLDL>Q<---------------NINLSAIRTVRVLRP185
CACNA1SFHQDAYLRSGWNVLDFTIVFLGVFTVILEQ>V<NVIQSHTAPMSSKGAGLDVKALRAFRVLRP172
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 213 for SCN5A.