Paralogue Annotation for CACNA1C residue 1055

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1055
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1055

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AF1404CEpisodic ataxia 2Medium9 11723274, 25109669
SCN5AF1360CBrugada syndromeMedium9 20129283, 24136861

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.



CACNA1CAIRTIGNIVIVTTLLQFMFACIGVQLFKGK>L<YTCSDSSKQTEAECKGNYITYKDGEVDHP-1084
CACNA1ASLKNVFNILIVYMLFMFIFAVVAVQLFKGK>F<FHCTDESKEFEKDCRGKYLLYEKNEVK---1430
CACNA1BSLKNVLNILIVYMLFMFIFAVIAVQLFKGK>F<FYCTDESKELERDCRGQYLDYEKEEVE---1336
CACNA1DAIRTIGNIMIVTTLLQFMFACIGVQLFKGK>F<YRCTDEAKSNPEECRGLFILYKDGDVDSP-1090
CACNA1ESLKNVFNILIVYKLFMFIFAVIAVQLFKGK>F<FYCTDSSKDTEKECIGNYVDHEKNKME---1342
CACNA1FAIRTIGNIMIVTTLLQFMFACIGVQLFKGK>F<YTCTDEAKHTPQECKGSFLVYPDGDVSRP-1055
CACNA1GSLKPIGNIVVICCAFFIIFGILGVQLFKGK>F<FVCQGED---------TRNITNKSDCA---1456
CACNA1HSLRPIGNIVLICCAFFIIFGILGVQLFKGK>F<YYCEGPD---------TRNISTKAQCR---1474
CACNA1ISLKPIGNIVLICCAFFIIFGILGVQLFKGK>F<YHCLGVD---------TRNITNRSDCM---1350
CACNA1SAISTIGNIVLVTTLLQFMFACIGVQLFKGK>F<FRCTDLSKMTEEECRGYYYVYKDGDPMQI-983
SCN10AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<WRCINYTDGEF-SLVPLSIVNNKSDCKIQN1336
SCN11AAIPAILNVLLVCLIFWLVFCILGVYFFSGK>F<GKCINGTDSVI----NYTIITNKSQCESGN1230
SCN1AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YHCINTTTGDR---FDIEDVNNHTDCLKLI1400
SCN2AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YHCINYTTGEM---FDVSVVNNYSECKALI1390
SCN3AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YHCVNMTTGNM---FDISDVNNLSDCQALG1388
SCN4AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YYCINTTTSER---FDISEVNNKSECESLM1213
SCN5AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<GRCINQTEGDL-P-LNYTIVNNKSQCESLN1388
SCN7ATTLPTLNVFLVCLMIWLIFSIMGVDLFAGR>F<YECIDPTSGER---FPSSEVMNKSRCESLL1111
SCN8AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>Y<HYCFNETSEIR---FEIEDVNNKTECEKLM1380
SCN9AAIPSIMNVLLVCLIFWLIFSIMGVNLFAGK>F<YECINTTDGSR---FPASQVPNRSECFALM1363
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1055 for CACNA1C.