Paralogue Annotation for CACNA1C residue 50

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 50
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 50

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AD58NIntellectual disability and epilepsyLow2 25725044, 25725044

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--IPTPGAA>L<SWQAAIDAARQAKLMGSAGNATISTVSST-79
CACNA1A---------VVGSG-GGRGAG--GSRQGGQ>-<-------PGA-----------QRMYKQSMA53
CACNA1B-----------RGG-GAGGAG--GPGPGGL>Q<-------PGQ-----------RVLYKQSIA50
CACNA1D-----R-LPLSGEG----PTSQPNSSKQTV>L<SWQAAIDAARQAKAAQTMSTSAPPPVGSLS81
CACNA1E----------SD-Q-SRNRQG--TPVPA-->-<-------SGQ-----------AAAYKQTKA44
CACNA1F---------GAGPG----PEWGLCPGP--->-<P-------AV--------EGESSGASGLGT47
CACNA1G-----M--RLND------LSG--AGGRP-->-<--------G-----------PGSA------37
CACNA1H-----A--ERGS------ELG--VSPSE-->-<--------S-----------P-AA------56
CACNA1I-----E--PGVTTE----QPG--P--RS-->P<-------PS-----------SPPG------37
CACNA1S------------------------------>-<---------------------------SSP6
SCN10AKQGT-KKARE-KHRE-QKDQE--EKPRPQL>D<LKACNQLPKFYGELPAELIGEPLEDLDPFY86
SCN11AQ-KEKKKSK-----D-QTGEV--PQPRPQL>D<LKASRKLPKLYGDIPRELIGKPLEDLDPFY85
SCN1AE-KAKNPKPD----K-KDDDE--NGPKPNS>D<LEAGKNLPFIYGDIPPEMVSEPLEDLDPYY84
SCN2AE-KAKRPKQE----RKDEDDE--NGPKPNS>D<LEAGKSLPFIYGDIPPEMVSVPLEDLDPYY85
SCN3AE-KAKKPKKE----Q-DNDDE--NKPKPNS>D<LEAGKNLPFIYGDIPPEMVSEPLEDLDPYY84
SCN4AE-EARLQRNK----Q-MEIEE--PERKPRS>D<LEAGKNLPMIYGDPPPEVIGIPLEDLDPYY87
SCN5AK-QARGSTTLQESRE-GLPEE--EAPRPQL>D<LQASKKLPDLYGNPPQELIGEPLEDLDPFY87
SCN7AT--------H----N-EDHEE--EDLKPTP>D<LEVGKKLPFIYGNLSQGMVSEPLEDVDPYY73
SCN8AS-KLKKPPKADGSHR-EDDED--SKPKPNS>D<LEAGKSLPFIYGDIPQGLVAVPLEDFDPYY88
SCN9AR-KSKEPKEE----K-KDDDE--EAPKPSS>D<LEAGKQLPFIYGDIPPGMVSEPLEDLDPYY82
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 50 for CACNA1C.