Paralogue Annotation for CACNA1C residue 769

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 769
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 769

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1006EEpilepsy ?Medium4 21248271

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.



CACNA1CCGNYILLNVFLAIAVDNLADAESLTSAQKE>E<EEE-KERKK-LART---AS-----------783
CACNA1AFGNYTLLNVFLAIAVDNLANAQELTKDEQE>E<EEA-ANQKL-ALQKAKEVAEVSPLSAANMS758
CACNA1BFGNYTLLNVFLAIAVDNLANAQELTKDEEE>M<EEA-ANQKL-ALQKAKEVAEVSPMSAANIS754
CACNA1DCGNYILLNVFLAIAVDNLADAESLNTAQKE>E<AEE-KERKK-IARK---ES-----------802
CACNA1EFGNYTLLNVFLAIAVDNLANAQELTKDEQE>E<EEA-FNQKH-ALQKAKEVSPMSAPNMPSIE747
CACNA1FCGNYILLNVFLAIAVDNLASGDA-GTAKDK>G<GEK-SNEKDLPQEN---EG-----------788
CACNA1GFGNYVLFNLLVAILVEGFQ-AEEISKREDA>S<GQL-SCIQL-PVDSQGGDANKS--------999
CACNA1HFGNYVLFNLLVAILVEGFQ-AEGDANRSDT>D<EDKTSVHFEEDFHKL---------------1045
CACNA1IFGNYVLFNLLVAILVEGFQAEGDAN-RSYS>D<EDQSSSNIE-EFDKLQE-------------893
CACNA1SCGNYILLNVFLAIAVDNLAEAESLTSAQKA>K<AEE-KKRRK-MSKGLPDKS-----------694
SCN10ALGNLVVLNLFIALLLNSFS-ADNLTAP-ED>D<GEV-NNLQV-ALARIQV---FGH-------922
SCN11AIGKLVVLNLFIALLLNSFS-NEERNGNLEG>E<ARK-TKVQL-ALDRFRRAFCFVR-------847
SCN1AIGNLVVLNLFLALLLSSFS-ADNLAAT-DD>D<NEM-NNLQI-AVDRMHKGVAYVK-------1027
SCN2AIGNLVVLNLFLALLLSSFS-SDNLAAT-DD>D<NEM-NNLQI-AVGRMQKGIDFVK-------1018
SCN3AIGNLVVLNLFLALLLSSFS-SDNLAAT-DD>D<NEM-NNLQI-AVGRMQKGIDYVK-------1019
SCN4AIGNLVVLNLFLALLLSSFS-ADSLAAS-DE>D<GEM-NNLQI-AIGRIKLGIGFAK-------837
SCN5AIGNLVVLNLFLALLLSSFS-ADNLTAP-DE>D<REM-NNLQL-ALARIQRGLRFVK-------974
SCN7AIGNLLVLYLFLA-LVSSFS-SCKDVTA-EE>N<NEA-KNLQL-AVARIKKGINYVL-------763
SCN8AIGNLVVLNLFLALLLSSFS-ADNLAAT-DD>D<GEM-NNLQI-SVIRIKKGVAWTK-------1012
SCN9AIGNLVVLNLFLALLLSSFS-SDNLTAI-EE>D<PDA-NNLQI-AVTRIKKGINYVK-------992
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 769 for CACNA1C.