Paralogue Annotation for CACNA1C residue 1434

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1434
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1434

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1744DGeneralized epilepsy with febrile seizures plusMedium7 22944210

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.



CACNA1CVLLLFRCATGEAWQDIMLACMPG--KKCAP>E<SEP-SNSTEGETP--CGS-SFAVFYFISFY1460
CACNA1ALMLLFRSATGEAWHNIMLSCLSG--KPCDK>N<SGIL-----T-R--ECGN-EFAYFYFVSFI1795
CACNA1BLMLLFRSATGEAWHEIMLSCLSN--QACDE>-<--Q------A-NATECGS-DFAYFYFVSFI1693
CACNA1DVLLLFRCATGEAWQEIMLACLPG--KLCDP>E<SDY--NPGE-EYT--CGS-NFAIVYFISFY1468
CACNA1ELMLLFRSATGEAWQEIMLSCLGE--KGCEP>D<TTAPSGQNEN-E--RCGT-DLAYVYFVSFI1707
CACNA1FVLLLFRCATGEAWQEIMLASLPG--NRCDP>E<SDF--GPGE-EFT--CGS-NFAIAYFISFF1425
CACNA1GFLTLFRVSTGDNWNGIMKDTLRD----CDQ>E<ST-----C-------YNT-VISPIYFVSFV1835
CACNA1HFLTLFRVSTGDNWNGIMKDTLRE----CSR>E<DKH----C---LS--YLP-ALSPVYFVTFV1844
CACNA1IFLTLFQVSTGDNWNGIMKDTLRD----CTH>D<ERS----C---LS--SLQ-FVSPLYFVSFV1714
CACNA1SVLLLFRCATGEAWQEILLACSYG--KLCDP>E<SDY--APGE-EYT--CGT-NFAYYYFISFY1365
SCN10AMLCLFQITTSAGWDGLLSPILNTGPPYCDP>N<LPN-S-NGTRGD---CGSPAVGIIFFTTYI1706
SCN11AMLCLFQISTSAGWDSLLSPMLRSKES-CN->-<-------SSSEN---CHLPGIATSYFVSYI1588
SCN1AMICLFQITTSAGWDGLLAPILNSKPPDCDP>N<KVN-PGSSVKGD---CGNPSVGIFFFVSYI1770
SCN2AMICLFQITTSAGWDGLLAPILNSGPPDCDP>D<KDH-PGSSVKGD---CGNPSVGIFFFVSYI1760
SCN3AMICLFQITTSAGWDGLLAPILNSAPPDCDP>D<TIH-PGSSVKGD---CGNPSVGIFFFVSYI1755
SCN4AIICLFEITTSAGWDGLLNPILNSGPPDCDP>N<LEN-PGTSVKGD---CGNPSIGICFFCSYI1582
SCN5AMLCLFQITTSAGWDGLLSPILNTGPPYCDP>T<LPN-S-NGSRGD---CGSPAVGILFFTTYI1756
SCN7AMLCLFQVAIFAGWDGMLDAIFNSKWSDCDP>D<KIN-PGTQVRGD---CGNPSVGIFYFVSYI1480
SCN8AMICLFQITTSAGWDGLLLPILN-RPPDCSL>D<KEH-PGSGFKGD---CGNPSVGIFFFVSYI1750
SCN9AMICLFQITTSAGWDGLLAPILNSKPPDCDP>K<KVH-PGSSVEGD---CGNPSVGIFYFVSYI1733
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1434 for CACNA1C.