Paralogue Annotation for CACNA1C residue 54

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 54
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 54

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG58VDravet syndromeLow3 18930999

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-A-NAAAGLA----PEH--IPTPGAALSWQ>A<AIDAARQAKLMGSAGNATISTVSST-QRKR83
CACNA1A-----VVGSG-GGRGAG--GSRQGGQ---->-<---PGA-----------QRMYKQSMAQRAR57
CACNA1B-------RGG-GAGGAG--GPGPGGLQ--->-<---PGQ-----------RVLYKQSIAQRAR54
CACNA1D-R-LPLSGEG----PTSQPNSSKQTVLSWQ>A<AIDAARQAKAAQTMSTSAPPPVGSLSQRKR85
CACNA1E------SD-Q-SRNRQG--TPVPA------>-<---SGQ-----------AAAYKQTKAQRAR48
CACNA1F-----GAGPG----PEWGLCPGP----P-->-<----AV--------EGESSGASGLGTPKRR51
CACNA1G-M--RLND------LSG--AGGRP------>-<----G-----------PGSA-------EKD40
CACNA1H-A--ERGS------ELG--VSPSE------>-<----S-----------P-AA-------ERG59
CACNA1I-E--PGVTTE----QPG--P--RS--P--->-<---PS-----------SPPG-------LEE40
CACNA1S------------------------------>-<-----------------------SSPQDEG10
SCN10A-KKARE-KHRE-QKDQE--EKPRPQLDLKA>C<NQLPKFYGELPAELIGEPLEDLDPFYSTHR90
SCN11AKKKSK-----D-QTGEV--PQPRPQLDLKA>S<RKLPKLYGDIPRELIGKPLEDLDPFYRNHK89
SCN1AKNPKPD----K-KDDDE--NGPKPNSDLEA>G<KNLPFIYGDIPPEMVSEPLEDLDPYYINKK88
SCN2AKRPKQE----RKDEDDE--NGPKPNSDLEA>G<KSLPFIYGDIPPEMVSVPLEDLDPYYINKK89
SCN3AKKPKKE----Q-DNDDE--NKPKPNSDLEA>G<KNLPFIYGDIPPEMVSEPLEDLDPYYINKK88
SCN4ARLQRNK----Q-MEIEE--PERKPRSDLEA>G<KNLPMIYGDPPPEVIGIPLEDLDPYYSNKK91
SCN5ARGSTTLQESRE-GLPEE--EAPRPQLDLQA>S<KKLPDLYGNPPQELIGEPLEDLDPFYSTQK91
SCN7A-----H----N-EDHEE--EDLKPTPDLEV>G<KKLPFIYGNLSQGMVSEPLEDVDPYYYKKK77
SCN8AKKPPKADGSHR-EDDED--SKPKPNSDLEA>G<KSLPFIYGDIPQGLVAVPLEDFDPYYLTQK92
SCN9AKEPKEE----K-KDDDE--EAPKPSSDLEA>G<KQLPFIYGDIPPGMVSEPLEDLDPYYADKK86
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 54 for CACNA1C.