Paralogue Annotation for CACNA1C residue 1416

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1416
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1416

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AE1757KEpisodic ataxia 2High9 11176968
SCN1AA1724PIntractable epilepsyMedium9 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.



CACNA1CTE-----INRNNNFQTFPQAVLLLFRCATG>E<AWQDIMLACMPG--KKCAPESEP-SNSTEG1443
CACNA1ASDEDEFQITEHNNFRTFFQALMLLFRSATG>E<AWHNIMLSCLSG--KPCDKNSGIL-----T1779
CACNA1BTS-----INRHNNFRTFLQALMLLFRSATG>E<AWHEIMLSCLSN--QACDE---Q------A1675
CACNA1DNQ-----INRNNNFQTFPQAVLLLFRCATG>E<AWQEIMLACLPG--KLCDPESDY--NPGE-1451
CACNA1ESH-----INRHNNFRSFFGSLMLLFRSATG>E<AWQEIMLSCLGE--KGCEPDTTAPSGQNEN1691
CACNA1FTQ-----INRNNNFQTFPQAVLLLFRCATG>E<AWQEIMLASLPG--NRCDPESDF--GPGE-1408
CACNA1GHP--CEGLGRHATFRNFGMAFLTLFRVSTG>D<NWNGIMKDTLRD----CDQEST-----C--1821
CACNA1HNP--CEGLSRHATFSNFGMAFLTLFRVSTG>D<NWNGIMKDTLRE----CSREDKH----C--1828
CACNA1INP--CEGMSRHATFENFGMAFLTLFQVSTG>D<NWNGIMKDTLRD----CTHDERS----C--1698
CACNA1STQ-----INRNNNFQTFPQAVLLLFRCATG>E<AWQEILLACSYG--KLCDPESDY--APGE-1348
SCN10AAG-----IDDMFNFQTFANSMLCLFQITTS>A<GWDGLLSPILNTGPPYCDPNLPN-S-NGTR1689
SCN11ASG-----IDDIFNFKTFASSMLCLFQISTS>A<GWDSLLSPMLRSKES-CN---------SSS1571
SCN1AVG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSKPPDCDPNKVN-PGSSVK1753
SCN2AVG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSGPPDCDPDKDH-PGSSVK1743
SCN3AAG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSAPPDCDPDTIH-PGSSVK1738
SCN4ASG-----IDDMFNFETFGNSIICLFEITTS>A<GWDGLLNPILNSGPPDCDPNLEN-PGTSVK1565
SCN5AAG-----IDDMFNFQTFANSMLCLFQITTS>A<GWDGLLSPILNTGPPYCDPTLPN-S-NGSR1739
SCN7AAG-----INDVSNFETFGNSMLCLFQVAIF>A<GWDGMLDAIFNSKWSDCDPDKIN-PGTQVR1463
SCN8AAG-----IDDMFNFETFGNSMICLFQITTS>A<GWDGLLLPILN-RPPDCSLDKEH-PGSGFK1733
SCN9ADG-----INDMFNFETFGNSMICLFQITTS>A<GWDGLLAPILNSKPPDCDPKKVH-PGSSVE1716
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1416 for CACNA1C.