Paralogue Annotation for CACNA1C residue 1432

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1432
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1432

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1742GGeneralized epilepsy with febrile seizures plusMedium8 15694566
SCN1AD1742VDravet syndrome, late-onsetMedium8 27236449

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.



CACNA1CQAVLLLFRCATGEAWQDIMLACMPG--KKC>A<PESEP-SNSTEGETP--CGS-SFAVFYFIS1458
CACNA1AQALMLLFRSATGEAWHNIMLSCLSG--KPC>D<KNSGIL-----T-R--ECGN-EFAYFYFVS1793
CACNA1BQALMLLFRSATGEAWHEIMLSCLSN--QAC>D<E---Q------A-NATECGS-DFAYFYFVS1691
CACNA1DQAVLLLFRCATGEAWQEIMLACLPG--KLC>D<PESDY--NPGE-EYT--CGS-NFAIVYFIS1466
CACNA1EGSLMLLFRSATGEAWQEIMLSCLGE--KGC>E<PDTTAPSGQNEN-E--RCGT-DLAYVYFVS1705
CACNA1FQAVLLLFRCATGEAWQEIMLASLPG--NRC>D<PESDF--GPGE-EFT--CGS-NFAIAYFIS1423
CACNA1GMAFLTLFRVSTGDNWNGIMKDTLRD----C>D<QEST-----C-------YNT-VISPIYFVS1833
CACNA1HMAFLTLFRVSTGDNWNGIMKDTLRE----C>S<REDKH----C---LS--YLP-ALSPVYFVT1842
CACNA1IMAFLTLFQVSTGDNWNGIMKDTLRD----C>T<HDERS----C---LS--SLQ-FVSPLYFVS1712
CACNA1SQAVLLLFRCATGEAWQEILLACSYG--KLC>D<PESDY--APGE-EYT--CGT-NFAYYYFIS1363
SCN10ANSMLCLFQITTSAGWDGLLSPILNTGPPYC>D<PNLPN-S-NGTRGD---CGSPAVGIIFFTT1704
SCN11ASSMLCLFQISTSAGWDSLLSPMLRSKES-C>N<---------SSSEN---CHLPGIATSYFVS1586
SCN1ANSMICLFQITTSAGWDGLLAPILNSKPPDC>D<PNKVN-PGSSVKGD---CGNPSVGIFFFVS1768
SCN2ANSMICLFQITTSAGWDGLLAPILNSGPPDC>D<PDKDH-PGSSVKGD---CGNPSVGIFFFVS1758
SCN3ANSMICLFQITTSAGWDGLLAPILNSAPPDC>D<PDTIH-PGSSVKGD---CGNPSVGIFFFVS1753
SCN4ANSIICLFEITTSAGWDGLLNPILNSGPPDC>D<PNLEN-PGTSVKGD---CGNPSIGICFFCS1580
SCN5ANSMLCLFQITTSAGWDGLLSPILNTGPPYC>D<PTLPN-S-NGSRGD---CGSPAVGILFFTT1754
SCN7ANSMLCLFQVAIFAGWDGMLDAIFNSKWSDC>D<PDKIN-PGTQVRGD---CGNPSVGIFYFVS1478
SCN8ANSMICLFQITTSAGWDGLLLPILN-RPPDC>S<LDKEH-PGSGFKGD---CGNPSVGIFFFVS1748
SCN9ANSMICLFQITTSAGWDGLLAPILNSKPPDC>D<PKKVH-PGSSVEGD---CGNPSVGIFYFVS1731
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1432 for CACNA1C.