Paralogue Annotation for CACNA1C residue 205

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 205
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 205

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AM203KMyopathy, congenitalMedium9 26700687

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.



CACNA1CFLKVIAYGLLFHPNAYLRNGWNLLDFIIVV>V<GLFSAILEQATKA-DGANALGGKGAGFDVK234
CACNA1AGIKIIALGFAFHKGSYLRNGWNVMDFVVVL>T<GILATVGTEF-----------------DLR192
CACNA1BGIKIIALGFVFHKGSYLRNGWNVMDFVVVL>T<GILATAGTDF-----------------DLR189
CACNA1DFLKIIAYGLLLHPNAYVRNGWNLLDFVIVI>V<GLFSVILEQLTKETEGGNHSSGKSGGFDVK237
CACNA1EGIKIVALGFIFHKGSYLRNGWNVMDFIVVL>S<GILATAGTHFN-------------THVDLR187
CACNA1FVLKIVAYGLVLHPSAYIRNGWNLLDFIIVV>V<GLFSVLLEQGPGRPGDAPHTGGKPGGFDVK203
CACNA1GVVKMVALGI-FGKKCYLGDTWNRLDFFIVI>A<GMLEYSLDLQ---------------NVSFS177
CACNA1HVIKMVALGL-FGQKCYLGDTWNRLDFFIVV>A<GMMEYSLDGH---------------NVSLS196
CACNA1IVLKMVALGI-FGKKCYLGDTWNRLDFFIVM>A<GMVEYSLDLQ---------------NINLS175
CACNA1SAMKIIAYGFLFHQDAYLRSGWNVLDFTIVF>L<GVFTVILEQVNVIQSHTAPMSSKGAGLDVK162
SCN10ALIKILARGFCLNEFTYLRDPWNWLDFSVIT>L<AYVGTAIDLR-----------------GIS212
SCN11ALIKILARGFILDEFSFLRDPWNWLDSIVIG>I<AIVSYIPGIT----------------IKLL219
SCN1ALIKIIARGFCLEDFTFLRDPWNWLDFTVIT>F<AYVTEFVDLG-----------------NVS213
SCN2ALIKILARGFCLEDFTFLRDPWNWLDFTVIT>F<AYVTEFVDLG-----------------NVS214
SCN3ALIKILARGFCLEDFTFLRDPWNWLDFSVIV>M<AYVTEFVDLG-----------------NVS213
SCN4ALIKILARGFCVDDFTFLRDPWNWLDFSVIM>M<AYLTEFVDLG-----------------NIS216
SCN5ALVKILARGFCLHAFTFLRDPWNWLDFSVII>M<AYVSENIKLG-----------------NLS216
SCN7ALVKLFARGVWAGSFSFLGDPWNWLDFSVTV>F<EVIIRYSPLD-----------------FIP203
SCN8ALVKIIARGFCIDGFTFLRDPWNWLDFSVIM>M<AYITEFVNLG-----------------NVS217
SCN9ALVKILARGFCVGEFTFLRDPWNWLDFVVIV>F<AYLTEFVNLG-----------------NVS211
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 205 for CACNA1C.