Paralogue Annotation for CACNA1C residue 456

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 456
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 456

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AG411WEpisodic ataxia 2Low2 27066515

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------------------------------>M<D-----------------------------457
CACNA1A------------------------------>G<EQRH--------------------------415
CACNA1B------------------------------>A<EEKS--------------------------411
CACNA1D------------------------------>G<E-----------------------------458
CACNA1E------------------------------>A<GTSA--------------------------406
CACNA1F------------------DNLG-SM----->A<E-----------------------------430
CACNA1G------------------VGLLSSPAP-LG>G<QETQPSSSCSRSHRRL--SV-HHLVH----496
CACNA1H------------------RK-KVDPSA-VQ>G<QGPGHRQRRAG---RHTASVHHLVYH----520
CACNA1I------------------QA-L-GPEAPAP>A<K-PGPHAKEPR---HYHGKTKGQGDE----497
CACNA1S------------------------------>K<L-----------------------------386
SCN10ALTSKNASERRHRIKPRV----S-EGST-ED>-<-NKSPRSDPYN-Q-----------------484
SCN11AFTPKKRKLFGNKKRKS----FF-LRES-GK>D<--QPPGSDSDE-------------------486
SCN1ALSSKSAKERRNRRKKRKQKEQS-GGEE-KD>E<-DEFQKSESEDSIRRK--GFRFSIEGNRLT544
SCN2ALSSKSEKELKNRRKKKKQKEQS-GEEE-KN>D<--RVRKSESEDSIRRK--GFRFSLEGSRLT547
SCN3ALSSKSAKEWRNRRKKRRQREHL-EGNN-KG>E<RDSFPKSESEDSVKRS--SFLFSMDGNRLT547
SCN4A---------------------E-GGEA-DG>D<------------------------------499
SCN5ALAPVNSHERRSKRRKR----MS-SGTE-EC>G<EDRLPKSDSEDGPRAM--N-----------507
SCN7A------------------------------>-<------------------------------
SCN8ALSSKSAKERRNRRKKRKQKELS-EGEE-KG>D<PEKVFKSESEDGMRRK--AFRLP-D-NRIG537
SCN9ALSSKSAKERRNRRKKKNQKKLS-SGEE-KG>D<AEKLSKSESEDSIRRK--SFHLGVEGHRRA524
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M456Vc.1366A>G Putative BenignSIFT:
Polyphen:
p.M456Ic.1368G>A Putative BenignSIFT:
Polyphen:
p.Met456Leuc.1366A>C UnknownSIFT:
Polyphen: