Paralogue Annotation for CACNA1C residue 237

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 237
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 237

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AR195KHemiplegic migraineHigh9 11439943
SCN5AR219HCardiomyopathy, dilatedHigh9 22675453, 24762805, 26304136
SCN11AR222SEpisodic pain syndromeHigh9 27224030
SCN11AR222HEpisodic pain syndromeHigh9 27224030

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.



CACNA1CFSAILEQATKA-DGANALGGKGAGFDVKAL>R<AFRVLRPLRLVSGVPSLQVVLNSIIKAMVP267
CACNA1ALATVGTEF-----------------DLRTL>R<AVRVLRPLKLVSGIPSLQVVLKSIMKAMIP225
CACNA1BLATAGTDF-----------------DLRTL>R<AVRVLRPLKLVSGIPSLQVVLKSIMKAMVP222
CACNA1DFSVILEQLTKETEGGNHSSGKSGGFDVKAL>R<AFRVLRPLRLVSGVPSLQVVLNSIIKAMVP270
CACNA1ELATAGTHFN-------------THVDLRTL>R<AVRVLRPLKLVSGIPSLQIVLKSIMKAMVP220
CACNA1FFSVLLEQGPGRPGDAPHTGGKPGGFDVKAL>R<AFRVLRPLRLVSGVPSLHIVLNSIMKALVP236
CACNA1GLEYSLDLQ---------------NVSFSAV>R<TVRVLRPLRAINRVPSMRILVTLLLDTLPM210
CACNA1HMEYSLDGH---------------NVSLSAI>R<TVRVLRPLRAINRVPSMRILVTLLLDTLPM229
CACNA1IVEYSLDLQ---------------NINLSAI>R<TVRVLRPLKAINRVPSMRILVNLLLDTLPM208
CACNA1SFTVILEQVNVIQSHTAPMSSKGAGLDVKAL>R<AFRVLRPLRLVSGVPSLQVVLNSIFKAMLP195
SCN10AVGTAIDLR-----------------GISGL>R<TFRVLRALKTVSVIPGLKVIVGALIHSVKK245
SCN11AVSYIPGIT----------------IKLLPL>R<TFRVFRALKAISVVSRLKVIVGALLRSVKK252
SCN1AVTEFVDLG-----------------NVSAL>R<TFRVLRALKTISVIPGLKTIVGALIQSVKK246
SCN2AVTEFVDLG-----------------NVSAL>R<TFRVLRALKTISVIPGLKTIVGALIQSVKK247
SCN3AVTEFVDLG-----------------NVSAL>R<TFRVLRALKTISVIPGLKTIVGALIQSVKK246
SCN4ALTEFVDLG-----------------NISAL>R<TFRVLRALKTITVIPGLKTIVGALIQSVKK249
SCN5AVSENIKLG-----------------NLSAL>R<TFRVLRALKTISVIPGLKTIVGALIQSVKK249
SCN7AIIRYSPLD-----------------FIPTL>Q<TARTLRILKIIPLNQGLKSLVGVLIHCLKQ236
SCN8AITEFVNLG-----------------NVSAL>R<TFRVLRALKTISVIPGLKTIVGALIQSVKK250
SCN9ALTEFVNLG-----------------NVSAL>R<TFRVLRALKTISVIPGLKTIVGALIQSVKK244
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 237 for CACNA1C.