Paralogue Annotation for CACNA1C residue 57

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 57
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 57

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL61FDravet syndromeMedium3 18930999
SCN1AL61PDravet syndromeMedium3 26863999

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.



CACNA1CNAAAGLA----PEH--IPTPGAALSWQAAI>D<AARQAKLMGSAGNATISTVSST-QRKRQQY86
CACNA1A--VVGSG-GGRGAG--GSRQGGQ------->-<PGA-----------QRMYKQSMAQRARTMA60
CACNA1B----RGG-GAGGAG--GPGPGGLQ------>-<PGQ-----------RVLYKQSIAQRARTMA57
CACNA1DLPLSGEG----PTSQPNSSKQTVLSWQAAI>D<AARQAKAAQTMSTSAPPPVGSLSQRKRQQY88
CACNA1E---SD-Q-SRNRQG--TPVPA--------->-<SGQ-----------AAAYKQTKAQRARTMA51
CACNA1F--GAGPG----PEWGLCPGP----P----->-<-AV--------EGESSGASGLGTPKRRNQH54
CACNA1G-RLND------LSG--AGGRP--------->-<-G-----------PGSA-------EKDPG-42
CACNA1H-ERGS------ELG--VSPSE--------->-<-S-----------P-AA-------ERGAEL62
CACNA1I-PGVTTE----QPG--P--RS--P------>-<PS-----------SPPG-------LEEPL-42
CACNA1S------------------------------>-<--------------------SSPQDEGLRK13
SCN10AARE-KHRE-QKDQE--EKPRPQLDLKACNQ>L<PKFYGELPAELIGEPLEDLDPFYSTHR-TF92
SCN11ASK-----D-QTGEV--PQPRPQLDLKASRK>L<PKLYGDIPRELIGKPLEDLDPFYRNHK-TF91
SCN1AKPD----K-KDDDE--NGPKPNSDLEAGKN>L<PFIYGDIPPEMVSEPLEDLDPYYINKK-TF90
SCN2AKQE----RKDEDDE--NGPKPNSDLEAGKS>L<PFIYGDIPPEMVSVPLEDLDPYYINKK-TF91
SCN3AKKE----Q-DNDDE--NKPKPNSDLEAGKN>L<PFIYGDIPPEMVSEPLEDLDPYYINKK-TF90
SCN4ARNK----Q-MEIEE--PERKPRSDLEAGKN>L<PMIYGDPPPEVIGIPLEDLDPYYSNKK-TF93
SCN5ATTLQESRE-GLPEE--EAPRPQLDLQASKK>L<PDLYGNPPQELIGEPLEDLDPFYSTQK-TF93
SCN7A--H----N-EDHEE--EDLKPTPDLEVGKK>L<PFIYGNLSQGMVSEPLEDVDPYYYKKKNTF80
SCN8APKADGSHR-EDDED--SKPKPNSDLEAGKS>L<PFIYGDIPQGLVAVPLEDFDPYYLTQK-TF94
SCN9AKEE----K-KDDDE--EAPKPSSDLEAGKQ>L<PFIYGDIPPGMVSEPLEDLDPYYADKK-TF88
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D57Nc.169G>A Putative BenignSIFT:
Polyphen: