Paralogue Annotation for CACNA1C residue 433

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 433
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 433

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AE388KEpisodic ataxia 2Low3 21696515

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.



CACNA1CVLSGEFSKEREKAKARGDFQKLREKQQLEE>D<LKG------------YLDWITQA-ED----446
CACNA1AVLSGEFAKERERVENRRAFLKLRRQQQIER>E<LNG------------YMEWISKA-EE----401
CACNA1BVLSGEFAKERERVENRRAFLKLRRQQQIER>E<LNG------------YLEWIFKA-EE----397
CACNA1DVLSGEFSKEREKAKARGDFQKLREKQQLEE>D<LKG------------YLDWITQA-ED----447
CACNA1EVLSGEFAKERERVENRRAFMKLRRQQQIER>E<LNG------------YRAWIDKA-EE----392
CACNA1FVLSGEFSKEREKAKARGDFQKQREKQQMEE>D<LRG------------YLDWITQA-EE----413
CACNA1GVIATQFSETKQRESQLMREQRVRFLSNAST>L<ASFSEPGSCYEELLKYLVYILRKAAR----449
CACNA1HVIATQFSETKQRESQLMREQRARHLSNDST>L<ASFSEPGSCYEELLKYVGHIFRKVKR----473
CACNA1IVIATQFSETKQREHRLMLEQRQRYLS-SST>V<ASYAEPGDCYEEIFQYVCHILRKAKR----451
CACNA1SVLSGEFTKEREKAKSRGTFQKLREKQQLDE>D<LRG------------YMSWITQG-EV----375
SCN10AVVTMAYEEQNQATTDEIEAK-EKKFQEALE>M<LRK------------EQEVLAALGIDTTS-441
SCN11AVVTMAYEEQNKNVAAEIEAK-EKMFQEAQQ>L<LKE------------EKEALVAMGIDRSS-444
SCN1AVVAMAYEEQNQATLEEAEQK-EAEFQQMIE>Q<LKK------------QQEAAQQAATATAS-467
SCN2AVVAMAYEEQNQATLEEAEQK-EAEFQQMLE>Q<LKK------------QQEEAQAAAAAASA-469
SCN3AVVAMAYEEQNQATLEEAEQK-EAEFQQMLE>Q<LKK------------QQEEAQAVAAASAA-468
SCN4AVVAMAYAEQNEATLAEDKEK-EEEFQQMLE>K<FKK------------HQEELEKAKAAQAL-491
SCN5AVVAMAYEEQNQATIAETEEK-EKRFQEAME>M<LKK------------EHEALTIRGVDTVS-457
SCN7AILAMAYEEEKQRVGEISKKI-EPKFQQTGK>E<LQE------------GNETDEAK-------432
SCN8AVVAMAYEEQNQATLEEAEQK-EAEFKAMLE>Q<LKK------------QQEEAQAAAMATSAG456
SCN9AVVAMAYEEQNQANIEEAKQK-ELEFQQMLD>R<LKK------------EQEEAEAIAAAAAE-446
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 433 for CACNA1C.