Paralogue Annotation for CACNA1C residue 1078

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1078
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1078

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH1393PMyoclonic epilepsy of infancyMedium4 17129991
CACNA1IR1346HSchizophreniaMedium4 23911319

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.



CACNA1CVQLFKGKLYTCSDSSKQTEAECKGNYITYK>D<GEVDHP-IIQ--PRSWENSKFDFDNVLAAM1105
CACNA1AVQLFKGKFFHCTDESKEFEKDCRGKYLLYE>K<NEVK----AR--DREWKKYEFHYDNVLWAL1450
CACNA1BVQLFKGKFFYCTDESKELERDCRGQYLDYE>K<EEVE----AQ--PRQWKKYDFHYDNVLWAL1356
CACNA1DVQLFKGKFYRCTDEAKSNPEECRGLFILYK>D<GDVDSP-VVR--ERIWQNSDFNFDNVLSAM1111
CACNA1EVQLFKGKFFYCTDSSKDTEKECIGNYVDHE>K<NKME----VK--GREWKRHEFHYDNIIWAL1362
CACNA1FVQLFKGKFYTCTDEAKHTPQECKGSFLVYP>D<GDVSRP-LVR--ERLWVNSDFNFDNVLSAM1076
CACNA1GVQLFKGKFFVCQGED---------TRNITN>K<SDCA----EA--SYRWVRHKYNFDNLGQAL1476
CACNA1HVQLFKGKFYYCEGPD---------TRNIST>K<AQCR----AA--HYRWVRRKYNFDNLGQAL1494
CACNA1IVQLFKGKFYHCLGVD---------TRNITN>R<SDCM----AA--NYRWVHHKYNFDNLGQAL1370
CACNA1SVQLFKGKFFRCTDLSKMTEEECRGYYYVYK>D<GDPMQI-ELR--HREWVHSDFHFDNVLSAM1004
SCN10AVNLFAGKFWRCINYTDGEF-SLVPLSIVNN>K<SDCKIQNSTGS--FFWVNVKVNFDNVAMGY1357
SCN11AVYFFSGKFGKCINGTDSVI----NYTIITN>K<SQCESGN------FSWINQKVNFDNVGNAY1247
SCN1AVNLFAGKFYHCINTTTGDR---FDIEDVNN>H<TDCLKLIERNET-ARWKNVKVNFDNVGFGY1422
SCN2AVNLFAGKFYHCINYTTGEM---FDVSVVNN>Y<SECKALIESNQT-ARWKNVKVNFDNVGLGY1412
SCN3AVNLFAGKFYHCVNMTTGNM---FDISDVNN>L<SDCQALGK--Q--ARWKNVKVNFDNVGAGY1407
SCN4AVNLFAGKFYYCINTTTSER---FDISEVNN>K<SECESLMHTGQ--VRWLNVKVNYDNVGLGY1234
SCN5AVNLFAGKFGRCINQTEGDL-P-LNYTIVNN>K<SQCESLNLTGE--LYWTKVKVNFDNVGAGY1409
SCN7AVDLFAGRFYECIDPTSGER---FPSSEVMN>K<SRCESLLFNES--MLWENAKMNFDNVGNGF1132
SCN8AVNLFAGKYHYCFNETSEIR---FEIEDVNN>K<TECEKLMEGNNTEIRWKNVKINFDNVGAGY1403
SCN9AVNLFAGKFYECINTTDGSR---FPASQVPN>R<SECFALMNVSQN-VRWKNLKVNFDNVGLGY1385
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1078Ec.3234C>A Putative BenignSIFT:
Polyphen: