Paralogue Annotation for CACNA1C residue 1066

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1066
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1066

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN3AM1372VEpilepsy, focalMedium6 24157691

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.



CACNA1CTTLLQFMFACIGVQLFKGKLYTCSDSSKQT>E<AECKGNYITYKDGEVDHP-IIQ--PRSWEN1093
CACNA1AYMLFMFIFAVVAVQLFKGKFFHCTDESKEF>E<KDCRGKYLLYEKNEVK----AR--DREWKK1438
CACNA1BYMLFMFIFAVIAVQLFKGKFFYCTDESKEL>E<RDCRGQYLDYEKEEVE----AQ--PRQWKK1344
CACNA1DTTLLQFMFACIGVQLFKGKFYRCTDEAKSN>P<EECRGLFILYKDGDVDSP-VVR--ERIWQN1099
CACNA1EYKLFMFIFAVIAVQLFKGKFFYCTDSSKDT>E<KECIGNYVDHEKNKME----VK--GREWKR1350
CACNA1FTTLLQFMFACIGVQLFKGKFYTCTDEAKHT>P<QECKGSFLVYPDGDVSRP-LVR--ERLWVN1064
CACNA1GCCAFFIIFGILGVQLFKGKFFVCQGED--->-<-----TRNITNKSDCA----EA--SYRWVR1464
CACNA1HCCAFFIIFGILGVQLFKGKFYYCEGPD--->-<-----TRNISTKAQCR----AA--HYRWVR1482
CACNA1ICCAFFIIFGILGVQLFKGKFYHCLGVD--->-<-----TRNITNRSDCM----AA--NYRWVH1358
CACNA1STTLLQFMFACIGVQLFKGKFFRCTDLSKMT>E<EECRGYYYVYKDGDPMQI-ELR--HREWVH992
SCN10ACLIFWLIFSIMGVNLFAGKFWRCINYTDGE>F<-SLVPLSIVNNKSDCKIQNSTGS--FFWVN1345
SCN11ACLIFWLVFCILGVYFFSGKFGKCINGTDSV>I<----NYTIITNKSQCESGN------FSWIN1235
SCN1ACLIFWLIFSIMGVNLFAGKFYHCINTTTGD>R<---FDIEDVNNHTDCLKLIERNET-ARWKN1410
SCN2ACLIFWLIFSIMGVNLFAGKFYHCINYTTGE>M<---FDVSVVNNYSECKALIESNQT-ARWKN1400
SCN3ACLIFWLIFSIMGVNLFAGKFYHCVNMTTGN>M<---FDISDVNNLSDCQALGK--Q--ARWKN1395
SCN4ACLIFWLIFSIMGVNLFAGKFYYCINTTTSE>R<---FDISEVNNKSECESLMHTGQ--VRWLN1222
SCN5ACLIFWLIFSIMGVNLFAGKFGRCINQTEGD>L<-P-LNYTIVNNKSQCESLNLTGE--LYWTK1397
SCN7ACLMIWLIFSIMGVDLFAGRFYECIDPTSGE>R<---FPSSEVMNKSRCESLLFNES--MLWEN1120
SCN8ACLIFWLIFSIMGVNLFAGKYHYCFNETSEI>R<---FEIEDVNNKTECEKLMEGNNTEIRWKN1391
SCN9ACLIFWLIFSIMGVNLFAGKFYECINTTDGS>R<---FPASQVPNRSECFALMNVSQN-VRWKN1373
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1066 for CACNA1C.