Paralogue Annotation for CACNA1C residue 86

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 86
Reference Amino Acid: Y - Tyrosine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 86

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF93SBrugada syndromeMedium5 20129283, 24136861
SCN1AF90SMyoclonic epilepsy of infancyMedium5 18554359, 23195492

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.



CACNA1CDAARQAKLMGSAGNATISTVSST-QRKRQQ>Y<G-KPKKQGSTTATRPPRALLCLTLKNPIRR115
CACNA1A-PGA-----------QRMYKQSMAQRARTM>A<L-YNPIPVRQNCLTVNRSLFLFSEDNVVRK89
CACNA1B-PGQ-----------RVLYKQSIAQRARTM>A<L-YNPIPVKQNCFTVNRSLFVFSEDNVVRK86
CACNA1DDAARQAKAAQTMSTSAPPPVGSLSQRKRQQ>Y<A-KSKKQGNSSNSRPARALFCLSLNNPIRR117
CACNA1E-SGQ-----------AAAYKQTKAQRARTM>A<L-YNPIPVRQNCFTVNRSLFIFGEDNIVRK80
CACNA1F--AV--------EGESSGASGLGTPKRRNQ>H<S-KHKTVAVASAQRSPRALFCLTLANPLRR83
CACNA1G--G-----------PGSA-------EKDPG>-<SADSEAEGLPYPALAPVVFFYLSQDSRPRS72
CACNA1H--S-----------P-AA-------ERGAE>L<G-ADEEQRVPYPALAATVFFCLGQTTRPRS91
CACNA1I-PS-----------SPPG-------LEEPL>-<D-G-ADPHVPHPDLAPIAFFCLRQTTSPRN70
CACNA1S---------------------SSPQDEGLR>K<K-QPKKPVPEILPRPPRALFCLTLENPLRK42
SCN10ALPKFYGELPAELIGEPLEDLDPFYSTHR-T>F<M-VLNKGRTISRFSATRALWLFSPFNLIRR121
SCN11ALPKLYGDIPRELIGKPLEDLDPFYRNHK-T>F<M-VLNRKRTIYRFSAKHALFIFGPFNSIRS120
SCN1ALPFIYGDIPPEMVSEPLEDLDPYYINKK-T>F<I-VLNKGKAIFRFSATSALYILTPFNPLRK119
SCN2ALPFIYGDIPPEMVSVPLEDLDPYYINKK-T>F<I-VLNKGKAISRFSATPALYILTPFNPIRK120
SCN3ALPFIYGDIPPEMVSEPLEDLDPYYINKK-T>F<I-VMNKGKAIFRFSATSALYILTPLNPVRK119
SCN4ALPMIYGDPPPEVIGIPLEDLDPYYSNKK-T>F<I-VLNKGKAIFRFSATPALYLLSPFSVVRR122
SCN5ALPDLYGNPPQELIGEPLEDLDPFYSTQK-T>F<I-VLNKGKTIFRFSATNALYVLSPFHPIRR122
SCN7ALPFIYGNLSQGMVSEPLEDVDPYYYKKKNT>F<I-VLNKNRTIFRFNAASILCTLSPFNCIRR109
SCN8ALPFIYGDIPQGLVAVPLEDFDPYYLTQK-T>F<V-VLNRGKTLFRFSATPALYILSPFNLIRR123
SCN9ALPFIYGDIPPGMVSEPLEDLDPYYADKK-T>F<I-VLNKGKTIFRFNATPALYMLSPFSPLRR117
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y86Cc.257A>G Putative BenignSIFT:
Polyphen: