Paralogue Annotation for CACNA1C residue 1415

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1415
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1415

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS1710LVentricular fibrillation, idiopathicMedium9 10940383, 22247482, 11827685
CACNA1AG1755REpilepsy with typical absence seizuresHigh9 26795593

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.



CACNA1CTTE-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQDIMLACMPG--KKCAPESEP-SNSTE1442
CACNA1ADSDEDEFQITEHNNFRTFFQALMLLFRSAT>G<EAWHNIMLSCLSG--KPCDKNSGIL-----1778
CACNA1BDTS-----INRHNNFRTFLQALMLLFRSAT>G<EAWHEIMLSCLSN--QACDE---Q------1674
CACNA1DNNQ-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQEIMLACLPG--KLCDPESDY--NPGE1451
CACNA1EESH-----INRHNNFRSFFGSLMLLFRSAT>G<EAWQEIMLSCLGE--KGCEPDTTAPSGQNE1690
CACNA1FGTQ-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQEIMLASLPG--NRCDPESDF--GPGE1408
CACNA1G-HP--CEGLGRHATFRNFGMAFLTLFRVST>G<DNWNGIMKDTLRD----CDQEST-----C-1821
CACNA1H-NP--CEGLSRHATFSNFGMAFLTLFRVST>G<DNWNGIMKDTLRE----CSREDKH----C-1828
CACNA1I-NP--CEGMSRHATFENFGMAFLTLFQVST>G<DNWNGIMKDTLRD----CTHDERS----C-1698
CACNA1SGTQ-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQEILLACSYG--KLCDPESDY--APGE1348
SCN10AEAG-----IDDMFNFQTFANSMLCLFQITT>S<AGWDGLLSPILNTGPPYCDPNLPN-S-NGT1688
SCN11AESG-----IDDIFNFKTFASSMLCLFQIST>S<AGWDSLLSPMLRSKES-CN---------SS1570
SCN1AEVG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSKPPDCDPNKVN-PGSSV1752
SCN2AEVG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSGPPDCDPDKDH-PGSSV1742
SCN3AEAG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSAPPDCDPDTIH-PGSSV1737
SCN4AESG-----IDDMFNFETFGNSIICLFEITT>S<AGWDGLLNPILNSGPPDCDPNLEN-PGTSV1564
SCN5AEAG-----IDDMFNFQTFANSMLCLFQITT>S<AGWDGLLSPILNTGPPYCDPTLPN-S-NGS1738
SCN7AEAG-----INDVSNFETFGNSMLCLFQVAI>F<AGWDGMLDAIFNSKWSDCDPDKIN-PGTQV1462
SCN8AEAG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLLPILN-RPPDCSLDKEH-PGSGF1732
SCN9AEDG-----INDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSKPPDCDPKKVH-PGSSV1715
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1415 for CACNA1C.