Paralogue Annotation for SCN5A residue 333

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 333
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 333

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG343DMyoclonic epilepsy of infancyHigh4 12566275

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.



SCN5ALDLYLSD-PENYLLKNGTSDVLLCGNSSDA>G<-T-C-PEGYRCLKAGENPDHGYTSFDSFAW360
SCN1AWKSYIQD-SRYHYFLEGFLDALLCGNSSDA>G<-Q-C-PEGYMCVKAGRNPNYGYTSFDTFSW370
SCN2AWDEYIED-KSHFYFLEGQNDALLCGNSSDA>G<-Q-C-PEGYICVKAGRNPNYGYTSFDTFSW372
SCN3AWKDYIGD-DSHFYVLDGQKDPLLCGNGSDA>G<-Q-C-PEGYICVKAGRNPNYGYTSFDTFSW371
SCN4AWDAYISD-EGNFYFLEGSNDALLCGNSSDA>G<-H-C-PEGYECIKTGRNPNYGYTSYDTFSW394
SCN7ANPYYIRE-TENFYYLEGERYALLCGNRTDA>G<-Q-C-PEGYVCVKAGINPDQGFTNFDSFGW341
SCN8AWEEYINN-KTNFYTVPGMLEPLLCGNSSDA>G<-Q-C-PEGYQCMKAGRNPNYGYTSFDTFSW358
SCN9AEEDF----RKYFYYLEGSKDALLCGFSTDS>G<-Q-C-PEGYTCVKIGRNPDYGYTSFDTFSW349
SCN10A-S-SHRK-PDIYINKRGTSDPLLCGNGSDS>G<-H-C-PDGYICLKTSDNPDFNYTSFDSFAW344
SCN11APE---AY-DHCFEKKENSPEFKMCGIWMGN>S<-A-C-SIQYECKHTKINPDYNYTNFDNFGW347
CACNA1A----------------E--SPAPCGTEEPA>-<RT-C-PNGTKCQPYWEGPNNGITQFDNILF306
CACNA1B----------------V--GDFPCGKEAPA>-<RL-C-EGDTECREYWPGPNFGITNFDNILF302
CACNA1C----------------D--DPSPCALETGH>G<RQ-CQN-GTVCKPGWDGPKHGITNFDNFAF351
CACNA1D----------------E--DPAPCAFSGNG>R<-Q-CTANGTECRSGWVGPNGGITNFDNFAF352
CACNA1E----------------D--PPHPCGVQG-->-<---C-PAGYEC-KDWIGPNDGITQFDNILF297
CACNA1F----------------E--DPSPCASSGSG>R<-A-CTLNQTECRGRWPGPNGGITNFDNFFF318
CACNA1GGGGPPCG-LDYEAYNS---------SSNTT>C<-VNWNQYYTNCSAGEHNPFKGAINFDNIGY342
CACNA1H-LRMPCT-LGWEAYTQP--QAEGVGAARNA>C<-INWNQYYNVCRSGDSNPHNGAINFDNIGY366
CACNA1I-QGRECCLSKDDVYDFG--AGRQDLNASGL>C<-VNWNRYYNVCRTGSANPHKGAINFDNIGY345
CACNA1S----------------E--EPSPCARTGSG>R<-R-CTINGSECRGGWPGPNHGITHFDNFGF280
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 333 for SCN5A.