Paralogue Annotation for CACNA1C residue 32

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 32
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 32

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG35SBrugada syndromeLow2 11960580, 23414114, 23805106

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------------PR-PAHANMN-------->A<-NAAAGLA----PEH--IPTPGAALSWQAA55
CACNA1A------------GGSGAAAGV--------->-<---VVGSG-GGRGAG--GSRQGGQ------41
CACNA1B------------PGGGERA----------->-<-----RGG-GAGGAG--GPGPGGLQ-----38
CACNA1D--------H--ANE-ANYARGT-------->R<-LPLSGEG----PTSQPNSSKQTVLSWQAA56
CACNA1E---------------GDGD----------->-<----SD-Q-SRNRQG--TPVPA--------32
CACNA1F------------PE-PSPAN---------->-<---GAGPG----PEWGLCPGP----P----33
CACNA1GGAEESGQP-R-S---------F-------->M<--RLND------LSG--AGGRP--------32
CACNA1HPPPGPAALVGASPESPGAPGRE-------->A<--ERGS------ELG--VSPSE--------52
CACNA1ISPPSSSAAAPAA------------------>E<--PGVTTE----QPG--P--RS--P-----31
CACNA1S------------------------------>-<------------------------------
SCN10AGSLETNNFRRFTPESLVEIEKQIAAKQGT->K<KARE-KHRE-QKDQE--EKPRPQLDLKACN61
SCN11AIFPDERNFRPFTSDSLAAIEKRIAIQ-KEK>K<KSK-----D-QTGEV--PQPRPQLDLKASR60
SCN1AVPPGPDSFNFFTRESLAAIERRIAEE-KAK>N<PKPD----K-KDDDE--NGPKPNSDLEAGK59
SCN2AVPPGPDSFRFFTRESLAAIEQRIAEE-KAK>R<PKQE----RKDEDDE--NGPKPNSDLEAGK60
SCN3AVPPGPESFRLFTRESLAAIEKRAAEE-KAK>K<PKKE----Q-DNDDE--NKPKPNSDLEAGK59
SCN4AVPLGPECLRPFTRESLAAIEQRAVEE-EAR>L<QRNK----Q-MEIEE--PERKPRSDLEAGK62
SCN5ALPRGTSSFRRFTRESLAAIEKRMAEK-QAR>G<STTLQESRE-GLPEE--EAPRPQLDLQASK62
SCN7AASPEPKGLVPFTKESFELIKQHIAKT---->-<---H----N-EDHEE--EDLKPTPDLEVGK48
SCN8AAPPGPDSFKPFTPESLANIERRIAES-KLK>K<PPKADGSHR-EDDED--SKPKPNSDLEAGK63
SCN9APPPGPQSFVHFTKQSLALIEQRIAER-KSK>E<PKEE----K-KDDDE--EAPKPSSDLEAGK57
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 32 for CACNA1C.