Paralogue Annotation for CACNA1C residue 204

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 204
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 204

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT199RMyoclonic epilepsy of infancyMedium9 17347258

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.



CACNA1CAFLKVIAYGLLFHPNAYLRNGWNLLDFIIV>V<VGLFSAILEQATKA-DGANALGGKGAGFDV233
CACNA1AAGIKIIALGFAFHKGSYLRNGWNVMDFVVV>L<TGILATVGTEF-----------------DL191
CACNA1BAGIKIIALGFVFHKGSYLRNGWNVMDFVVV>L<TGILATAGTDF-----------------DL188
CACNA1DTFLKIIAYGLLLHPNAYVRNGWNLLDFVIV>I<VGLFSVILEQLTKETEGGNHSSGKSGGFDV236
CACNA1EAGIKIVALGFIFHKGSYLRNGWNVMDFIVV>L<SGILATAGTHFN-------------THVDL186
CACNA1FTVLKIVAYGLVLHPSAYIRNGWNLLDFIIV>V<VGLFSVLLEQGPGRPGDAPHTGGKPGGFDV202
CACNA1GMVVKMVALGI-FGKKCYLGDTWNRLDFFIV>I<AGMLEYSLDLQ---------------NVSF176
CACNA1HMVIKMVALGL-FGQKCYLGDTWNRLDFFIV>V<AGMMEYSLDGH---------------NVSL195
CACNA1IMVLKMVALGI-FGKKCYLGDTWNRLDFFIV>M<AGMVEYSLDLQ---------------NINL174
CACNA1SAAMKIIAYGFLFHQDAYLRSGWNVLDFTIV>F<LGVFTVILEQVNVIQSHTAPMSSKGAGLDV161
SCN10AALIKILARGFCLNEFTYLRDPWNWLDFSVI>T<LAYVGTAIDLR-----------------GI211
SCN11AALIKILARGFILDEFSFLRDPWNWLDSIVI>G<IAIVSYIPGIT----------------IKL218
SCN1ASLIKIIARGFCLEDFTFLRDPWNWLDFTVI>T<FAYVTEFVDLG-----------------NV212
SCN2ASLIKILARGFCLEDFTFLRDPWNWLDFTVI>T<FAYVTEFVDLG-----------------NV213
SCN3ASLIKILARGFCLEDFTFLRDPWNWLDFSVI>V<MAYVTEFVDLG-----------------NV212
SCN4ASLIKILARGFCVDDFTFLRDPWNWLDFSVI>M<MAYLTEFVDLG-----------------NI215
SCN5ASLVKILARGFCLHAFTFLRDPWNWLDFSVI>I<MAYVSENIKLG-----------------NL215
SCN7AILVKLFARGVWAGSFSFLGDPWNWLDFSVT>V<FEVIIRYSPLD-----------------FI202
SCN8ASLVKIIARGFCIDGFTFLRDPWNWLDFSVI>M<MAYITEFVNLG-----------------NV216
SCN9ASLVKILARGFCVGEFTFLRDPWNWLDFVVI>V<FAYLTEFVNLG-----------------NV210
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 204 for CACNA1C.