Paralogue Annotation for CACNA1C residue 1429

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1429
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1429

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1739LGeneralized epilepsy with febrile seizures plus ?Medium6 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.



CACNA1CTFPQAVLLLFRCATGEAWQDIMLACMPG-->K<KCAPESEP-SNSTEGETP--CGS-SFAVFY1455
CACNA1ATFFQALMLLFRSATGEAWHNIMLSCLSG-->K<PCDKNSGIL-----T-R--ECGN-EFAYFY1790
CACNA1BTFLQALMLLFRSATGEAWHEIMLSCLSN-->Q<ACDE---Q------A-NATECGS-DFAYFY1688
CACNA1DTFPQAVLLLFRCATGEAWQEIMLACLPG-->K<LCDPESDY--NPGE-EYT--CGS-NFAIVY1463
CACNA1ESFFGSLMLLFRSATGEAWQEIMLSCLGE-->K<GCEPDTTAPSGQNEN-E--RCGT-DLAYVY1702
CACNA1FTFPQAVLLLFRCATGEAWQEIMLASLPG-->N<RCDPESDF--GPGE-EFT--CGS-NFAIAY1420
CACNA1GNFGMAFLTLFRVSTGDNWNGIMKDTLRD-->-<-CDQEST-----C-------YNT-VISPIY1830
CACNA1HNFGMAFLTLFRVSTGDNWNGIMKDTLRE-->-<-CSREDKH----C---LS--YLP-ALSPVY1839
CACNA1INFGMAFLTLFQVSTGDNWNGIMKDTLRD-->-<-CTHDERS----C---LS--SLQ-FVSPLY1709
CACNA1STFPQAVLLLFRCATGEAWQEILLACSYG-->K<LCDPESDY--APGE-EYT--CGT-NFAYYY1360
SCN10ATFANSMLCLFQITTSAGWDGLLSPILNTGP>P<YCDPNLPN-S-NGTRGD---CGSPAVGIIF1701
SCN11ATFASSMLCLFQISTSAGWDSLLSPMLRSKE>S<-CN---------SSSEN---CHLPGIATSY1583
SCN1ATFGNSMICLFQITTSAGWDGLLAPILNSKP>P<DCDPNKVN-PGSSVKGD---CGNPSVGIFF1765
SCN2ATFGNSMICLFQITTSAGWDGLLAPILNSGP>P<DCDPDKDH-PGSSVKGD---CGNPSVGIFF1755
SCN3ATFGNSMICLFQITTSAGWDGLLAPILNSAP>P<DCDPDTIH-PGSSVKGD---CGNPSVGIFF1750
SCN4ATFGNSIICLFEITTSAGWDGLLNPILNSGP>P<DCDPNLEN-PGTSVKGD---CGNPSIGICF1577
SCN5ATFANSMLCLFQITTSAGWDGLLSPILNTGP>P<YCDPTLPN-S-NGSRGD---CGSPAVGILF1751
SCN7ATFGNSMLCLFQVAIFAGWDGMLDAIFNSKW>S<DCDPDKIN-PGTQVRGD---CGNPSVGIFY1475
SCN8ATFGNSMICLFQITTSAGWDGLLLPILN-RP>P<DCSLDKEH-PGSGFKGD---CGNPSVGIFF1745
SCN9ATFGNSMICLFQITTSAGWDGLLAPILNSKP>P<DCDPKKVH-PGSSVEGD---CGNPSVGIFY1728
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1429 for CACNA1C.