Paralogue Annotation for CACNA1C residue 1445

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1445
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1445

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1755GDravet syndromeLow3 26252084

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.



CACNA1CWQDIMLACMPG--KKCAPESEP-SNSTEGE>T<P--CGS-SFAVFYFISFYMLCAFLIINLFV1472
CACNA1AWHNIMLSCLSG--KPCDKNSGIL-----T->R<--ECGN-EFAYFYFVSFIFLCSFLMLNLFV1807
CACNA1BWHEIMLSCLSN--QACDE---Q------A->N<ATECGS-DFAYFYFVSFIFLCSFLMLNLFV1705
CACNA1DWQEIMLACLPG--KLCDPESDY--NPGE-E>Y<T--CGS-NFAIVYFISFYMLCAFLIINLFV1480
CACNA1EWQEIMLSCLGE--KGCEPDTTAPSGQNEN->E<--RCGT-DLAYVYFVSFIFFCSFLMLNLFV1719
CACNA1FWQEIMLASLPG--NRCDPESDF--GPGE-E>F<T--CGS-NFAIAYFISFFMLCAFLIINLFV1437
CACNA1GWNGIMKDTLRD----CDQEST-----C--->-<---YNT-VISPIYFVSFVLTAQFVLVNVVI1847
CACNA1HWNGIMKDTLRE----CSREDKH----C--->L<S--YLP-ALSPVYFVTFVLVAQFVLVNVVV1856
CACNA1IWNGIMKDTLRD----CTHDERS----C--->L<S--SLQ-FVSPLYFVSFVLTAQFVLINVVV1726
CACNA1SWQEILLACSYG--KLCDPESDY--APGE-E>Y<T--CGT-NFAYYYFISFYMLCAFLVINLFV1377
SCN10AWDGLLSPILNTGPPYCDPNLPN-S-NGTRG>D<---CGSPAVGIIFFTTYIIISFLIMVNMYI1718
SCN11AWDSLLSPMLRSKES-CN---------SSSE>N<---CHLPGIATSYFVSYIIISFLIVVNMYI1600
SCN1AWDGLLAPILNSKPPDCDPNKVN-PGSSVKG>D<---CGNPSVGIFFFVSYIIISFLVVVNMYI1782
SCN2AWDGLLAPILNSGPPDCDPDKDH-PGSSVKG>D<---CGNPSVGIFFFVSYIIISFLVVVNMYI1772
SCN3AWDGLLAPILNSAPPDCDPDTIH-PGSSVKG>D<---CGNPSVGIFFFVSYIIISFLVVVNMYI1767
SCN4AWDGLLNPILNSGPPDCDPNLEN-PGTSVKG>D<---CGNPSIGICFFCSYIIISFLIVVNMYI1594
SCN5AWDGLLSPILNTGPPYCDPTLPN-S-NGSRG>D<---CGSPAVGILFFTTYIIISFLIVVNMYI1768
SCN7AWDGMLDAIFNSKWSDCDPDKIN-PGTQVRG>D<---CGNPSVGIFYFVSYILISWLIIVNMYI1492
SCN8AWDGLLLPILN-RPPDCSLDKEH-PGSGFKG>D<---CGNPSVGIFFFVSYIIISFLIVVNMYI1762
SCN9AWDGLLAPILNSKPPDCDPKKVH-PGSSVEG>D<---CGNPSVGIFYFVSYIIISFLVVVNMYI1745
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1445 for CACNA1C.