Paralogue Annotation for CACNA1C residue 233

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 233
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 233

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV212ADravet syndromeHigh9 18076640
SCN2AV213DEpileptic encephalopathy, early onsetHigh9 23935176
SCN8AV216DEpileptic encephalopathy, infantileHigh9 24888894

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.



CACNA1CVVGLFSAILEQATKA-DGANALGGKGAGFD>V<KALRAFRVLRPLRLVSGVPSLQVVLNSIIK263
CACNA1ALTGILATVGTEF-----------------D>L<RTLRAVRVLRPLKLVSGIPSLQVVLKSIMK221
CACNA1BLTGILATAGTDF-----------------D>L<RTLRAVRVLRPLKLVSGIPSLQVVLKSIMK218
CACNA1DIVGLFSVILEQLTKETEGGNHSSGKSGGFD>V<KALRAFRVLRPLRLVSGVPSLQVVLNSIIK266
CACNA1ELSGILATAGTHFN-------------THVD>L<RTLRAVRVLRPLKLVSGIPSLQIVLKSIMK216
CACNA1FVVGLFSVLLEQGPGRPGDAPHTGGKPGGFD>V<KALRAFRVLRPLRLVSGVPSLHIVLNSIMK232
CACNA1GIAGMLEYSLDLQ---------------NVS>F<SAVRTVRVLRPLRAINRVPSMRILVTLLLD206
CACNA1HVAGMMEYSLDGH---------------NVS>L<SAIRTVRVLRPLRAINRVPSMRILVTLLLD225
CACNA1IMAGMVEYSLDLQ---------------NIN>L<SAIRTVRVLRPLKAINRVPSMRILVNLLLD204
CACNA1SFLGVFTVILEQVNVIQSHTAPMSSKGAGLD>V<KALRAFRVLRPLRLVSGVPSLQVVLNSIFK191
SCN10ATLAYVGTAIDLR-----------------G>I<SGLRTFRVLRALKTVSVIPGLKVIVGALIH241
SCN11AGIAIVSYIPGIT----------------IK>L<LPLRTFRVFRALKAISVVSRLKVIVGALLR248
SCN1ATFAYVTEFVDLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ242
SCN2ATFAYVTEFVDLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ243
SCN3AVMAYVTEFVDLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ242
SCN4AMMAYLTEFVDLG-----------------N>I<SALRTFRVLRALKTITVIPGLKTIVGALIQ245
SCN5AIMAYVSENIKLG-----------------N>L<SALRTFRVLRALKTISVIPGLKTIVGALIQ245
SCN7AVFEVIIRYSPLD-----------------F>I<PTLQTARTLRILKIIPLNQGLKSLVGVLIH232
SCN8AMMAYITEFVNLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ246
SCN9AVFAYLTEFVNLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ240
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 233 for CACNA1C.