Paralogue Annotation for CACNA1C residue 87

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 87
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 87

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI94SBrugada syndromeMedium5 20129283, 24136861
SCN1AI91TMyoclonic epilepsy of infancyMedium5 18554359, 24168886

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.



CACNA1CAARQAKLMGSAGNATISTVSST-QRKRQQY>G<-KPKKQGSTTATRPPRALLCLTLKNPIRRA116
CACNA1APGA-----------QRMYKQSMAQRARTMA>L<-YNPIPVRQNCLTVNRSLFLFSEDNVVRKY90
CACNA1BPGQ-----------RVLYKQSIAQRARTMA>L<-YNPIPVKQNCFTVNRSLFVFSEDNVVRKY87
CACNA1DAARQAKAAQTMSTSAPPPVGSLSQRKRQQY>A<-KSKKQGNSSNSRPARALFCLSLNNPIRRA118
CACNA1ESGQ-----------AAAYKQTKAQRARTMA>L<-YNPIPVRQNCFTVNRSLFIFGEDNIVRKY81
CACNA1F-AV--------EGESSGASGLGTPKRRNQH>S<-KHKTVAVASAQRSPRALFCLTLANPLRRS84
CACNA1G-G-----------PGSA-------EKDPG->S<ADSEAEGLPYPALAPVVFFYLSQDSRPRSW73
CACNA1H-S-----------P-AA-------ERGAEL>G<-ADEEQRVPYPALAATVFFCLGQTTRPRSW92
CACNA1IPS-----------SPPG-------LEEPL->D<-G-ADPHVPHPDLAPIAFFCLRQTTSPRNW71
CACNA1S--------------------SSPQDEGLRK>K<-QPKKPVPEILPRPPRALFCLTLENPLRKA43
SCN10APKFYGELPAELIGEPLEDLDPFYSTHR-TF>M<-VLNKGRTISRFSATRALWLFSPFNLIRRT122
SCN11APKLYGDIPRELIGKPLEDLDPFYRNHK-TF>M<-VLNRKRTIYRFSAKHALFIFGPFNSIRSL121
SCN1APFIYGDIPPEMVSEPLEDLDPYYINKK-TF>I<-VLNKGKAIFRFSATSALYILTPFNPLRKI120
SCN2APFIYGDIPPEMVSVPLEDLDPYYINKK-TF>I<-VLNKGKAISRFSATPALYILTPFNPIRKL121
SCN3APFIYGDIPPEMVSEPLEDLDPYYINKK-TF>I<-VMNKGKAIFRFSATSALYILTPLNPVRKI120
SCN4APMIYGDPPPEVIGIPLEDLDPYYSNKK-TF>I<-VLNKGKAIFRFSATPALYLLSPFSVVRRG123
SCN5APDLYGNPPQELIGEPLEDLDPFYSTQK-TF>I<-VLNKGKTIFRFSATNALYVLSPFHPIRRA123
SCN7APFIYGNLSQGMVSEPLEDVDPYYYKKKNTF>I<-VLNKNRTIFRFNAASILCTLSPFNCIRRT110
SCN8APFIYGDIPQGLVAVPLEDFDPYYLTQK-TF>V<-VLNRGKTLFRFSATPALYILSPFNLIRRI124
SCN9APFIYGDIPPGMVSEPLEDLDPYYADKK-TF>I<-VLNKGKTIFRFNATPALYMLSPFSPLRRI118
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 87 for CACNA1C.