Paralogue Annotation for CACNA1C residue 316

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 316
Reference Amino Acid: C - Cysteine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 316

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 CACNA1C.



CACNA1C-----------------------D--DPSP>C<ALETGHGRQ-CQN-GTVCKPGWDGPKHGIT344
CACNA1A-----------------------E--SPAP>C<GTEEPA-RT-C-PNGTKCQPYWEGPNNGIT299
CACNA1B-----------------------V--GDFP>C<GKEAPA-RL-C-EGDTECREYWPGPNFGIT295
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
SCN10A-Y------S-SHRK-PDIYINKRGTSDPLL>C<GNGSDSG-H-C-PDGYICLKTSDNPDFNYT337
SCN11A-------PE---AY-DHCFEKKENSPEFKM>C<GIWMGNS-A-C-SIQYECKHTKINPDYNYT340
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
SCN5ADGLVWESLDLYLSD-PENYLLKNGTSDVLL>C<GNSSDAG-T-C-PEGYRCLKAGENPDHGYT353
SCN7A-------NPYYIRE-TENFYYLEGERYALL>C<GNRTDAG-Q-C-PEGYVCVKAGINPDQGFT334
SCN8AKGF---DWEEYINN-KTNFYTVPGMLEPLL>C<GNSSDAG-Q-C-PEGYQCMKAGRNPNYGYT351
SCN9ATLE---SEEDF----RKYFYYLEGSKDALL>C<GFSTDSG-Q-C-PEGYTCVKIGRNPDYGYT342
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 316 for CACNA1C.