Paralogue Annotation for CACNA1C residue 1076

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1076
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1076

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1391SDravet syndromeMedium5 18930999

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.



CACNA1CIGVQLFKGKLYTCSDSSKQTEAECKGNYIT>Y<KDGEVDHP-IIQ--PRSWENSKFDFDNVLA1103
CACNA1AVAVQLFKGKFFHCTDESKEFEKDCRGKYLL>Y<EKNEVK----AR--DREWKKYEFHYDNVLW1448
CACNA1BIAVQLFKGKFFYCTDESKELERDCRGQYLD>Y<EKEEVE----AQ--PRQWKKYDFHYDNVLW1354
CACNA1DIGVQLFKGKFYRCTDEAKSNPEECRGLFIL>Y<KDGDVDSP-VVR--ERIWQNSDFNFDNVLS1109
CACNA1EIAVQLFKGKFFYCTDSSKDTEKECIGNYVD>H<EKNKME----VK--GREWKRHEFHYDNIIW1360
CACNA1FIGVQLFKGKFYTCTDEAKHTPQECKGSFLV>Y<PDGDVSRP-LVR--ERLWVNSDFNFDNVLS1074
CACNA1GLGVQLFKGKFFVCQGED---------TRNI>T<NKSDCA----EA--SYRWVRHKYNFDNLGQ1474
CACNA1HLGVQLFKGKFYYCEGPD---------TRNI>S<TKAQCR----AA--HYRWVRRKYNFDNLGQ1492
CACNA1ILGVQLFKGKFYHCLGVD---------TRNI>T<NRSDCM----AA--NYRWVHHKYNFDNLGQ1368
CACNA1SIGVQLFKGKFFRCTDLSKMTEEECRGYYYV>Y<KDGDPMQI-ELR--HREWVHSDFHFDNVLS1002
SCN10AMGVNLFAGKFWRCINYTDGEF-SLVPLSIV>N<NKSDCKIQNSTGS--FFWVNVKVNFDNVAM1355
SCN11ALGVYFFSGKFGKCINGTDSVI----NYTII>T<NKSQCESGN------FSWINQKVNFDNVGN1245
SCN1AMGVNLFAGKFYHCINTTTGDR---FDIEDV>N<NHTDCLKLIERNET-ARWKNVKVNFDNVGF1420
SCN2AMGVNLFAGKFYHCINYTTGEM---FDVSVV>N<NYSECKALIESNQT-ARWKNVKVNFDNVGL1410
SCN3AMGVNLFAGKFYHCVNMTTGNM---FDISDV>N<NLSDCQALGK--Q--ARWKNVKVNFDNVGA1405
SCN4AMGVNLFAGKFYYCINTTTSER---FDISEV>N<NKSECESLMHTGQ--VRWLNVKVNYDNVGL1232
SCN5AMGVNLFAGKFGRCINQTEGDL-P-LNYTIV>N<NKSQCESLNLTGE--LYWTKVKVNFDNVGA1407
SCN7AMGVDLFAGRFYECIDPTSGER---FPSSEV>M<NKSRCESLLFNES--MLWENAKMNFDNVGN1130
SCN8AMGVNLFAGKYHYCFNETSEIR---FEIEDV>N<NKTECEKLMEGNNTEIRWKNVKINFDNVGA1401
SCN9AMGVNLFAGKFYECINTTDGSR---FPASQV>P<NRSECFALMNVSQN-VRWKNLKVNFDNVGL1383
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1076 for CACNA1C.