Paralogue Annotation for CACNA1C residue 1419

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1419
Reference Amino Acid: Q - Glutamine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1419

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD1714GBrugada syndromeMedium9 16266370
SCN1AD1727GMyoclonic epilepsy of infancyMedium9 23195492

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.



CACNA1C----INRNNNFQTFPQAVLLLFRCATGEAW>Q<DIMLACMPG--KKCAPESEP-SNSTEGETP1446
CACNA1ADEFQITEHNNFRTFFQALMLLFRSATGEAW>H<NIMLSCLSG--KPCDKNSGIL-----T-R-1780
CACNA1B----INRHNNFRTFLQALMLLFRSATGEAW>H<EIMLSCLSN--QACDE---Q------A-NA1677
CACNA1D----INRNNNFQTFPQAVLLLFRCATGEAW>Q<EIMLACLPG--KLCDPESDY--NPGE-EYT1454
CACNA1E----INRHNNFRSFFGSLMLLFRSATGEAW>Q<EIMLSCLGE--KGCEPDTTAPSGQNEN-E-1692
CACNA1F----INRNNNFQTFPQAVLLLFRCATGEAW>Q<EIMLASLPG--NRCDPESDF--GPGE-EFT1411
CACNA1G-CEGLGRHATFRNFGMAFLTLFRVSTGDNW>N<GIMKDTLRD----CDQEST-----C-----1821
CACNA1H-CEGLSRHATFSNFGMAFLTLFRVSTGDNW>N<GIMKDTLRE----CSREDKH----C---LS1830
CACNA1I-CEGMSRHATFENFGMAFLTLFQVSTGDNW>N<GIMKDTLRD----CTHDERS----C---LS1700
CACNA1S----INRNNNFQTFPQAVLLLFRCATGEAW>Q<EILLACSYG--KLCDPESDY--APGE-EYT1351
SCN10A----IDDMFNFQTFANSMLCLFQITTSAGW>D<GLLSPILNTGPPYCDPNLPN-S-NGTRGD-1691
SCN11A----IDDIFNFKTFASSMLCLFQISTSAGW>D<SLLSPMLRSKES-CN---------SSSEN-1573
SCN1A----IDDMFNFETFGNSMICLFQITTSAGW>D<GLLAPILNSKPPDCDPNKVN-PGSSVKGD-1755
SCN2A----IDDMFNFETFGNSMICLFQITTSAGW>D<GLLAPILNSGPPDCDPDKDH-PGSSVKGD-1745
SCN3A----IDDMFNFETFGNSMICLFQITTSAGW>D<GLLAPILNSAPPDCDPDTIH-PGSSVKGD-1740
SCN4A----IDDMFNFETFGNSIICLFEITTSAGW>D<GLLNPILNSGPPDCDPNLEN-PGTSVKGD-1567
SCN5A----IDDMFNFQTFANSMLCLFQITTSAGW>D<GLLSPILNTGPPYCDPTLPN-S-NGSRGD-1741
SCN7A----INDVSNFETFGNSMLCLFQVAIFAGW>D<GMLDAIFNSKWSDCDPDKIN-PGTQVRGD-1465
SCN8A----IDDMFNFETFGNSMICLFQITTSAGW>D<GLLLPILN-RPPDCSLDKEH-PGSGFKGD-1735
SCN9A----INDMFNFETFGNSMICLFQITTSAGW>D<GLLAPILNSKPPDCDPKKVH-PGSSVEGD-1718
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1419 for CACNA1C.