Paralogue Annotation for CACNA1C residue 414

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 414
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 414

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA432SDravet syndromeMedium9 27236449

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.



CACNA1CYFVTLIIIGSFFVLNLVLGVLSGEFSKERE>K<AKARGDFQKLREKQQLEEDLKG--------436
CACNA1AYFIPLIIIGSFFMLNLVLGVLSGEFAKERE>R<VENRRAFLKLRRQQQIERELNG--------391
CACNA1BYFIPLIIIGSFFMLNLVLGVLSGEFAKERE>R<VENRRAFLKLRRQQQIERELNG--------387
CACNA1DYFVSLIILGSFFVLNLVLGVLSGEFSKERE>K<AKARGDFQKLREKQQLEEDLKG--------437
CACNA1EYFIPLIIIGSFFVLNLVLGVLSGEFAKERE>R<VENRRAFMKLRRQQQIERELNG--------382
CACNA1FYFVSLVIFGSFFVLNLVLGVLSGEFSKERE>K<AKARGDFQKQREKQQMEEDLRG--------403
CACNA1GYFILLIIVGSFFMINLCLVVIATQFSETKQ>R<ESQLMREQRVRFLSNASTLASFSEPGSCYE434
CACNA1HYFILLIIVGSFFMINLCLVVIATQFSETKQ>R<ESQLMREQRARHLSNDSTLASFSEPGSCYE458
CACNA1IYFILLIIVGSFFMINLCLVVIATQFSETKQ>R<EHRLMLEQRQRYLS-SSTVASYAEPGDCYE436
CACNA1SYFVTLILLGSFFILNLVLGVLSGEFTKERE>K<AKSRGTFQKLREKQQLDEDLRG--------365
SCN10AFFVLVIFLGSFYLVNLILAVVTMAYEEQNQ>A<TTDEIEAK-EKKFQEALEMLRK--------427
SCN11AFFIVVIFLGSFYLINLTLAVVTMAYEEQNK>N<VAAEIEAK-EKMFQEAQQLLKE--------430
SCN1AFFVLVIFLGSFYLINLILAVVAMAYEEQNQ>A<TLEEAEQK-EAEFQQMIEQLKK--------453
SCN2AFFVLVIFLGSFYLINLILAVVAMAYEEQNQ>A<TLEEAEQK-EAEFQQMLEQLKK--------455
SCN3AFFVLVIFLGSFYLVNLILAVVAMAYEEQNQ>A<TLEEAEQK-EAEFQQMLEQLKK--------454
SCN4AFFVVIIFLGSFYLINLILAVVAMAYAEQNE>A<TLAEDKEK-EEEFQQMLEKFKK--------477
SCN5AFFMLVIFLGSFYLVNLILAVVAMAYEEQNQ>A<TIAETEEK-EKRFQEAMEMLKK--------443
SCN7AFFVVVSFLFSFYMASLFLGILAMAYEEEKQ>R<VGEISKKI-EPKFQQTGKELQE--------424
SCN8AFFVLVIFVGSFYLVNLILAVVAMAYEEQNQ>A<TLEEAEQK-EAEFKAMLEQLKK--------441
SCN9AFFVVVIFLGSFYLINLILAVVAMAYEEQNQ>A<NIEEAKQK-ELEFQQMLDRLKK--------432
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 414 for CACNA1C.