Paralogue Annotation for CACNA1C residue 211

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 211
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 211

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AF210LEpileptic encephalopathyMedium6 25818041

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.



CACNA1CYGLLFHPNAYLRNGWNLLDFIIVVVGLFSA>I<LEQATKA-DGANALGGKGAGFDVKALRAFR240
CACNA1ALGFAFHKGSYLRNGWNVMDFVVVLTGILAT>V<GTEF-----------------DLRTLRAVR198
CACNA1BLGFVFHKGSYLRNGWNVMDFVVVLTGILAT>A<GTDF-----------------DLRTLRAVR195
CACNA1DYGLLLHPNAYVRNGWNLLDFVIVIVGLFSV>I<LEQLTKETEGGNHSSGKSGGFDVKALRAFR243
CACNA1ELGFIFHKGSYLRNGWNVMDFIVVLSGILAT>A<GTHFN-------------THVDLRTLRAVR193
CACNA1FYGLVLHPSAYIRNGWNLLDFIIVVVGLFSV>L<LEQGPGRPGDAPHTGGKPGGFDVKALRAFR209
CACNA1GLGI-FGKKCYLGDTWNRLDFFIVIAGMLEY>S<LDLQ---------------NVSFSAVRTVR183
CACNA1HLGL-FGQKCYLGDTWNRLDFFIVVAGMMEY>S<LDGH---------------NVSLSAIRTVR202
CACNA1ILGI-FGKKCYLGDTWNRLDFFIVMAGMVEY>S<LDLQ---------------NINLSAIRTVR181
CACNA1SYGFLFHQDAYLRSGWNVLDFTIVFLGVFTV>I<LEQVNVIQSHTAPMSSKGAGLDVKALRAFR168
SCN10ARGFCLNEFTYLRDPWNWLDFSVITLAYVGT>A<IDLR-----------------GISGLRTFR218
SCN11ARGFILDEFSFLRDPWNWLDSIVIGIAIVSY>I<PGIT----------------IKLLPLRTFR225
SCN1ARGFCLEDFTFLRDPWNWLDFTVITFAYVTE>F<VDLG-----------------NVSALRTFR219
SCN2ARGFCLEDFTFLRDPWNWLDFTVITFAYVTE>F<VDLG-----------------NVSALRTFR220
SCN3ARGFCLEDFTFLRDPWNWLDFSVIVMAYVTE>F<VDLG-----------------NVSALRTFR219
SCN4ARGFCVDDFTFLRDPWNWLDFSVIMMAYLTE>F<VDLG-----------------NISALRTFR222
SCN5ARGFCLHAFTFLRDPWNWLDFSVIIMAYVSE>N<IKLG-----------------NLSALRTFR222
SCN7ARGVWAGSFSFLGDPWNWLDFSVTVFEVIIR>Y<SPLD-----------------FIPTLQTAR209
SCN8ARGFCIDGFTFLRDPWNWLDFSVIMMAYITE>F<VNLG-----------------NVSALRTFR223
SCN9ARGFCVGEFTFLRDPWNWLDFVVIVFAYLTE>F<VNLG-----------------NVSALRTFR217
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 211 for CACNA1C.