Paralogue Annotation for CACNA1C residue 449

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 449
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 449

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HA480TIdiopathic epilepsy, generalisedLow2 15048902, 15852375

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.



CACNA1CYLDWITQA-ED-----------------ID>P<ENEDEG------------------------455
CACNA1AYMEWISKA-EE-----------------VI>L<AEDETD------------------------410
CACNA1BYLEWIFKA-EE-----------------VM>L<AEEDRN------------------------406
CACNA1DYLDWITQA-ED-----------------ID>P<ENEEEG------------------------456
CACNA1EYRAWIDKA-EE-----------------VM>L<AEENKN------------------------401
CACNA1FYLDWITQA-EE-----------------LD>M<EDPSAD------------------------422
CACNA1GYLVYILRKAAR-------------RLAQVS>R<A--AGVR-----------------------461
CACNA1HYVGHIFRKVKR-------------RSLRLY>A<RW-QSRW-----------------------486
CACNA1IYVCHILRKAKR-------------RALGLY>Q<AL-QSRR-----------------------464
CACNA1SYMSWITQG-EV-----------------MD>V<EDFREG------------------------384
SCN10AEQEVLAALGIDTTS---------------->-<----LHSHNGSPLTSKNASERRHRIKPRV-466
SCN11AEKEALVAMGIDRSS---------------->-<----LTSLETSYFTPKKRKLFGNKKRKS--468
SCN1AQQEAAQQAATATAS----EHSREPSAAGRL>-<---SDSSSEASKLSSKSAKERRNRRKKRKQ506
SCN2AQQEEAQAAAAAASA-----ESRDFSGAGGI>G<VF-SESSSVASKLSSKSEKELKNRRKKKKQ510
SCN3AQQEEAQAVAAASAA------SRDFSGIGGL>G<EL-LESSSEASKLSSKSAKEWRNRRKKRRQ508
SCN4AHQEELEKAKAAQAL---------------->-<------------------------------491
SCN5AEHEALTIRGVDTVS---------------->-<----RSSLEMSPLAPVNSHERRSKRRKR--481
SCN7AGNETDEAK---------------------->-<------------------------------432
SCN8AQQEEAQAAAMATSAGTVSEDAIEEEGEEGG>-<GS-PRSSSEISKLSSKSAKERRNRRKKRKQ500
SCN9AEQEEAEAIAAAAAE----YTSIRRSRIMGL>-<---SESSSETSKLSSKSAKERRNRRKKKNQ485
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 449 for CACNA1C.