Paralogue Annotation for SCN5A residue 326

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 326
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 326

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC336YDravet syndromeHigh5 24168886
CACNA1AC272YParoxysmal tonic upward gazeHigh5 25596066

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.



SCN5ADGLVWESLDLYLSD-PENYLLKNGTSDVLL>C<GNSSDAG-T-C-PEGYRCLKAGENPDHGYT353
SCN1AFEF---DWKSYIQD-SRYHYFLEGFLDALL>C<GNSSDAG-Q-C-PEGYMCVKAGRNPNYGYT363
SCN2ASIF---NWDEYIED-KSHFYFLEGQNDALL>C<GNSSDAG-Q-C-PEGYICVKAGRNPNYGYT365
SCN3ASTF---NWKDYIGD-DSHFYVLDGQKDPLL>C<GNGSDAG-Q-C-PEGYICVKAGRNPNYGYT364
SCN4ADTF---DWDAYISD-EGNFYFLEGSNDALL>C<GNSSDAG-H-C-PEGYECIKTGRNPNYGYT387
SCN7A-------NPYYIRE-TENFYYLEGERYALL>C<GNRTDAG-Q-C-PEGYVCVKAGINPDQGFT334
SCN8AKGF---DWEEYINN-KTNFYTVPGMLEPLL>C<GNSSDAG-Q-C-PEGYQCMKAGRNPNYGYT351
SCN9ATLE---SEEDF----RKYFYYLEGSKDALL>C<GFSTDSG-Q-C-PEGYTCVKIGRNPDYGYT342
SCN10A-Y------S-SHRK-PDIYINKRGTSDPLL>C<GNGSDSG-H-C-PDGYICLKTSDNPDFNYT337
SCN11A-------PE---AY-DHCFEKKENSPEFKM>C<GIWMGNS-A-C-SIQYECKHTKINPDYNYT340
CACNA1A-----------------------E--SPAP>C<GTEEPA-RT-C-PNGTKCQPYWEGPNNGIT299
CACNA1B-----------------------V--GDFP>C<GKEAPA-RL-C-EGDTECREYWPGPNFGIT295
CACNA1C-----------------------D--DPSP>C<ALETGHGRQ-CQN-GTVCKPGWDGPKHGIT344
CACNA1D-----------------------E--DPAP>C<AFSGNGR-Q-CTANGTECRSGWVGPNGGIT345
CACNA1E-----------------------D--PPHP>C<GVQG------C-PAGYEC-KDWIGPNDGIT290
CACNA1F-----------------------E--DPSP>C<ASSGSGR-A-CTLNQTECRGRWPGPNGGIT311
CACNA1GRGD---GGGGPPCG-LDYEAYNS------->-<-SSNTTC-VNWNQYYTNCSAGEHNPFKGAI335
CACNA1HRE------LRMPCT-LGWEAYTQP--QAEG>V<GAARNAC-INWNQYYNVCRSGDSNPHNGAI359
CACNA1IKE------QGRECCLSKDDVYDFG--AGRQ>D<LNASGLC-VNWNRYYNVCRTGSANPHKGAI338
CACNA1S-----------------------E--EPSP>C<ARTGSGR-R-CTINGSECRGGWPGPNHGIT273
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 326 for SCN5A.