Paralogue Annotation for CACNA1C residue 1630

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1630
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1630

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR1928GMyoclonic epilepsy of infancyMedium8 18413471, 26990884
SCN2AR1918HEpilepsy, idiopathic generalised ?Medium8 11738931

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.



CACNA1CLDQVVPPAGDDEVTVGKFYATFLIQEYF-R>K<FKKRKE--QGLV-GK--PS--------QRN1647
CACNA1ALDLLVTPHKSTDLTVGKIYAAMMIMEYY-R>Q<SKAKK--LQAMR-E---EQDRTPLMFQRME1992
CACNA1BLDLLVPPHKPDEMTVGKVYAALMIFDFY-K>Q<NKTTRDQMQQAPGG---LS----QMGPVSL1890
CACNA1DLDQVVPPAGDDEVTVGKFYATFLIQDYF-R>K<FKKRKE--QGLV-GK-YPA--------KNT1656
CACNA1ELDLLVPMPKASDLTVGKIYAAMMIMDYY-K>Q<SKVKKQ--RQQL-E---EQ-KNAPMFQRME1903
CACNA1FLDEVIPPPDEEEVTVGKFYATFLIQDYF-R>K<FRRRKE--KGLL-GN-DAA--------PST1613
CACNA1GAFPSAPSLGGSDP-----QIPLAEMEAL-S>L<TSEIVS--EPSC------------------1996
CACNA1HFRPVVPASAPHPR-----PLQEVEMETYGA>G<TPLGSV--ASVH-SP-PAE-SCASLQIPLA1984
CACNA1IFHHYSSPAGCKKCHHDKQEVQLAETEAF-S>L<NSDRSS--SILL-GD-DLS-LEDPTACPPG1883
CACNA1SLDQVIPPIGDDEVTVGKFYATFLIQEHF-R>K<FMKRQE--EYY--GY--RP--------KKD1551
SCN10AYEPIATTLRWKQEDIS----ATVIQKAY-R>S<YVLHRS--MALS-NTPCVP---------RA1882
SCN11AYEPIVTTTKRKEEERG----AAIIQKAF-R>K<YMMKVT--KGDQ-G-D--Q-----------1759
SCN1AYQPITTTLKRKQEEVS----AVIIQRAY-R>R<HLLKRT--VKQA-SFTYNK---------NK1946
SCN2AYEPITTTLKRKQEEVS----AIIIQRAY-R>R<YLLKQK--VKKV-SSIYKK---------DK1936
SCN3AYEPITTTLKRKQEEVS----AAIIQRNF-R>C<YLLKQR--LKNI-SSNYNK---------EA1931
SCN4AYEPITTTLKRKHEEVC----AIKIQRAY-R>R<HLLQRS--MKQA-SYMYRH---------SH1758
SCN5AYEPITTTLRRKHEEVS----AMVIQRAF-R>R<HLLQRS--LKHA-SFLFRQ---------QA1932
SCN7ACEPITTTLKRKQEAVS----ATIIQRAY-K>N<YRLRRN--DKNT-SDIHMI---------DG1656
SCN8AYEPITTTLRRKQEEVS----AVVLQRAY-R>G<HLARRG--FIC-------------------1917
SCN9AYEPITTTLKRKQEDVS----ATVIQRAY-R>R<YRLRQN--VKNI-SSIYIK---------DG1909
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1630 for CACNA1C.