Paralogue Annotation for CACNA1C residue 450

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 450
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 450

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AA405TSpinocerebellar ataxia 6Low2 20682717

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.



CACNA1CLDWITQA-ED-----------------IDP>E<NEDEG-------------------------455
CACNA1AMEWISKA-EE-----------------VIL>A<EDETD-------------------------410
CACNA1BLEWIFKA-EE-----------------VML>A<EEDRN-------------------------406
CACNA1DLDWITQA-ED-----------------IDP>E<NEEEG-------------------------456
CACNA1ERAWIDKA-EE-----------------VML>A<EENKN-------------------------401
CACNA1FLDWITQA-EE-----------------LDM>E<DPSAD------------------------D423
CACNA1GLVYILRKAAR-------------RLAQVSR>A<--AGVR-----------------------V462
CACNA1HVGHIFRKVKR-------------RSLRLYA>R<W-QSRW-----------------------R487
CACNA1IVCHILRKAKR-------------RALGLYQ>A<L-QSRR-----------------------Q465
CACNA1SMSWITQG-EV-----------------MDV>E<DFREG-------------------------384
SCN10AQEVLAALGIDTTS----------------->-<---LHSHNGSPLTSKNASERRHRIKPRV--466
SCN11AKEALVAMGIDRSS----------------->-<---LTSLETSYFTPKKRKLFGNKKRKS---468
SCN1AQEAAQQAATATAS----EHSREPSAAGRL->-<--SDSSSEASKLSSKSAKERRNRRKKRKQK507
SCN2AQEEAQAAAAAASA-----ESRDFSGAGGIG>V<F-SESSSVASKLSSKSEKELKNRRKKKKQK511
SCN3AQEEAQAVAAASAA------SRDFSGIGGLG>E<L-LESSSEASKLSSKSAKEWRNRRKKRRQR509
SCN4AQEELEKAKAAQAL----------------->-<------------------------------491
SCN5AHEALTIRGVDTVS----------------->-<---RSSLEMSPLAPVNSHERRSKRRKR---481
SCN7ANETDEAK----------------------->-<------------------------------432
SCN8AQEEAQAAAMATSAGTVSEDAIEEEGEEGG->G<S-PRSSSEISKLSSKSAKERRNRRKKRKQK501
SCN9AQEEAEAIAAAAAE----YTSIRRSRIMGL->-<--SESSSETSKLSSKSAKERRNRRKKKNQK486
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E450Qc.1348G>C Putative BenignSIFT: tolerated
Polyphen: possibly damaging