Paralogue Annotation for CACNA1C residue 206

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 206
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 206

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA204VBrugada syndromeMedium9 20129283
SCN10AA200VBrugada syndromeMedium9 25691538, 25691538

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.



CACNA1CLKVIAYGLLFHPNAYLRNGWNLLDFIIVVV>G<LFSAILEQATKA-DGANALGGKGAGFDVKA235
CACNA1AIKIIALGFAFHKGSYLRNGWNVMDFVVVLT>G<ILATVGTEF-----------------DLRT193
CACNA1BIKIIALGFVFHKGSYLRNGWNVMDFVVVLT>G<ILATAGTDF-----------------DLRT190
CACNA1DLKIIAYGLLLHPNAYVRNGWNLLDFVIVIV>G<LFSVILEQLTKETEGGNHSSGKSGGFDVKA238
CACNA1EIKIVALGFIFHKGSYLRNGWNVMDFIVVLS>G<ILATAGTHFN-------------THVDLRT188
CACNA1FLKIVAYGLVLHPSAYIRNGWNLLDFIIVVV>G<LFSVLLEQGPGRPGDAPHTGGKPGGFDVKA204
CACNA1GVKMVALGI-FGKKCYLGDTWNRLDFFIVIA>G<MLEYSLDLQ---------------NVSFSA178
CACNA1HIKMVALGL-FGQKCYLGDTWNRLDFFIVVA>G<MMEYSLDGH---------------NVSLSA197
CACNA1ILKMVALGI-FGKKCYLGDTWNRLDFFIVMA>G<MVEYSLDLQ---------------NINLSA176
CACNA1SMKIIAYGFLFHQDAYLRSGWNVLDFTIVFL>G<VFTVILEQVNVIQSHTAPMSSKGAGLDVKA163
SCN10AIKILARGFCLNEFTYLRDPWNWLDFSVITL>A<YVGTAIDLR-----------------GISG213
SCN11AIKILARGFILDEFSFLRDPWNWLDSIVIGI>A<IVSYIPGIT----------------IKLLP220
SCN1AIKIIARGFCLEDFTFLRDPWNWLDFTVITF>A<YVTEFVDLG-----------------NVSA214
SCN2AIKILARGFCLEDFTFLRDPWNWLDFTVITF>A<YVTEFVDLG-----------------NVSA215
SCN3AIKILARGFCLEDFTFLRDPWNWLDFSVIVM>A<YVTEFVDLG-----------------NVSA214
SCN4AIKILARGFCVDDFTFLRDPWNWLDFSVIMM>A<YLTEFVDLG-----------------NISA217
SCN5AVKILARGFCLHAFTFLRDPWNWLDFSVIIM>A<YVSENIKLG-----------------NLSA217
SCN7AVKLFARGVWAGSFSFLGDPWNWLDFSVTVF>E<VIIRYSPLD-----------------FIPT204
SCN8AVKIIARGFCIDGFTFLRDPWNWLDFSVIMM>A<YITEFVNLG-----------------NVSA218
SCN9AVKILARGFCVGEFTFLRDPWNWLDFVVIVF>A<YLTEFVNLG-----------------NVSA212
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 206 for CACNA1C.