Paralogue Annotation for CACNA1C residue 458

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 458
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 458

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HG499SEpilepsy, childhood absenceLow2 12891677

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------------------------------>E<EKPR------N--MSM---P-----T----468
CACNA1A---------------------------PFD>G<-ALR------R--TTI---K-K--------428
CACNA1B---------------------------PLD>A<-VLK------R--AAT---K-K--------424
CACNA1D------------------------------>E<-GKR------N--TSM---P-----T----468
CACNA1E---------------------------L-->E<-VLR------R--ATI---K-R--------417
CACNA1F------------------------------>E<-G-RAGHRPQL--AEL---T-NRRRGRLRW453
CACNA1G----HHHHHHHHYHL-GNGTLRAPRASPEI>Q<-DRD------ANGSRRLMLP-P--------536
CACNA1H----HHHHHHHHYHF-SHGSPRRPGPEPGA>C<-DTR------LVR-----AG-A--------555
CACNA1I----GRHLGSRHCQT-LHGP---------->-<------------------------------512
CACNA1S------------------------------>-<----------S--LDE---G-----G----392
SCN10A------------RRMSFLGLASGKRRASHG>-<-SVF------H--FRS---PGR-DIS----515
SCN11A------------------------------>-<------------------------------
SCN1ALTYEKRYSSPHQSLLSIRGSLFSPRRNSRT>-<-SLF------S--FRG---RAK-DVG----585
SCN2ALTYEKRFSSPHQSLLSIRGSLFSPRRNSRA>-<-SLF------S--FRG---RAK-DIG----588
SCN3ALTSDKKFCSPHQSLLSIRGSLFSPRRNSKT>-<-SIF------S--FRG---RAK-DVG----588
SCN4A------------------------------>-<------------------------------
SCN5A----------HLSLTRGLSRTSMKPRSSRG>-<-SIF------T--FRR-----R-DLG----538
SCN7A------------------------------>-<------------------------------
SCN8AIG--RKFSIMNQSLLSIPGSPFLSRHNSKS>-<-SIF------S--FRGPG-RFR-DPG----578
SCN9ARAHEKRLSTPNQSPLSIRGSLFSARRSSRT>-<-SLF------S--FKG---RGR-DIG----565
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 458 for CACNA1C.