Paralogue Annotation for CACNA1C residue 234

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 234
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 234

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AR192QHemiplegic migraine and episodic ataxia 2Medium9 8898206, 10024348, 15003170, 18581134, 19104150, 19242091, 20735819, 22144569, 9488686, 22956801, 22836594, 23985897, 24583041, 25481823, 25716839, 26208839
SCN5AS216LCardiomyopathy, dilated ?Medium9 19412328, 15851227, 17210841, 20129283, 21705349, 22378279, 22685113, 23158531, 23299917, 23414114, 23465283, 26159999, 27287068
SCN9AS211PErythermalgia, primaryMedium9 20123784
CACNA1AR192WEpisodic ataxia 2Medium9 25473036

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.



CACNA1CVGLFSAILEQATKA-DGANALGGKGAGFDV>K<ALRAFRVLRPLRLVSGVPSLQVVLNSIIKA264
CACNA1ATGILATVGTEF-----------------DL>R<TLRAVRVLRPLKLVSGIPSLQVVLKSIMKA222
CACNA1BTGILATAGTDF-----------------DL>R<TLRAVRVLRPLKLVSGIPSLQVVLKSIMKA219
CACNA1DVGLFSVILEQLTKETEGGNHSSGKSGGFDV>K<ALRAFRVLRPLRLVSGVPSLQVVLNSIIKA267
CACNA1ESGILATAGTHFN-------------THVDL>R<TLRAVRVLRPLKLVSGIPSLQIVLKSIMKA217
CACNA1FVGLFSVLLEQGPGRPGDAPHTGGKPGGFDV>K<ALRAFRVLRPLRLVSGVPSLHIVLNSIMKA233
CACNA1GAGMLEYSLDLQ---------------NVSF>S<AVRTVRVLRPLRAINRVPSMRILVTLLLDT207
CACNA1HAGMMEYSLDGH---------------NVSL>S<AIRTVRVLRPLRAINRVPSMRILVTLLLDT226
CACNA1IAGMVEYSLDLQ---------------NINL>S<AIRTVRVLRPLKAINRVPSMRILVNLLLDT205
CACNA1SLGVFTVILEQVNVIQSHTAPMSSKGAGLDV>K<ALRAFRVLRPLRLVSGVPSLQVVLNSIFKA192
SCN10ALAYVGTAIDLR-----------------GI>S<GLRTFRVLRALKTVSVIPGLKVIVGALIHS242
SCN11AIAIVSYIPGIT----------------IKL>L<PLRTFRVFRALKAISVVSRLKVIVGALLRS249
SCN1AFAYVTEFVDLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS243
SCN2AFAYVTEFVDLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS244
SCN3AMAYVTEFVDLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS243
SCN4AMAYLTEFVDLG-----------------NI>S<ALRTFRVLRALKTITVIPGLKTIVGALIQS246
SCN5AMAYVSENIKLG-----------------NL>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS246
SCN7AFEVIIRYSPLD-----------------FI>P<TLQTARTLRILKIIPLNQGLKSLVGVLIHC233
SCN8AMAYITEFVNLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS247
SCN9AFAYLTEFVNLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS241
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 234 for CACNA1C.