Paralogue Annotation for CACNA1C residue 1079

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1079
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1079

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS1382IBrugada syndromeMedium4 12106943, 24136861
SCN1AT1394IDravet syndrome C ?Medium4 21248271

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.



CACNA1CQLFKGKLYTCSDSSKQTEAECKGNYITYKD>G<EVDHP-IIQ--PRSWENSKFDFDNVLAAMM1106
CACNA1AQLFKGKFFHCTDESKEFEKDCRGKYLLYEK>N<EVK----AR--DREWKKYEFHYDNVLWALL1451
CACNA1BQLFKGKFFYCTDESKELERDCRGQYLDYEK>E<EVE----AQ--PRQWKKYDFHYDNVLWALL1357
CACNA1DQLFKGKFYRCTDEAKSNPEECRGLFILYKD>G<DVDSP-VVR--ERIWQNSDFNFDNVLSAMM1112
CACNA1EQLFKGKFFYCTDSSKDTEKECIGNYVDHEK>N<KME----VK--GREWKRHEFHYDNIIWALL1363
CACNA1FQLFKGKFYTCTDEAKHTPQECKGSFLVYPD>G<DVSRP-LVR--ERLWVNSDFNFDNVLSAMM1077
CACNA1GQLFKGKFFVCQGED---------TRNITNK>S<DCA----EA--SYRWVRHKYNFDNLGQALM1477
CACNA1HQLFKGKFYYCEGPD---------TRNISTK>A<QCR----AA--HYRWVRRKYNFDNLGQALM1495
CACNA1IQLFKGKFYHCLGVD---------TRNITNR>S<DCM----AA--NYRWVHHKYNFDNLGQALM1371
CACNA1SQLFKGKFFRCTDLSKMTEEECRGYYYVYKD>G<DPMQI-ELR--HREWVHSDFHFDNVLSAMM1005
SCN10ANLFAGKFWRCINYTDGEF-SLVPLSIVNNK>S<DCKIQNSTGS--FFWVNVKVNFDNVAMGYL1358
SCN11AYFFSGKFGKCINGTDSVI----NYTIITNK>S<QCESGN------FSWINQKVNFDNVGNAYL1248
SCN1ANLFAGKFYHCINTTTGDR---FDIEDVNNH>T<DCLKLIERNET-ARWKNVKVNFDNVGFGYL1423
SCN2ANLFAGKFYHCINYTTGEM---FDVSVVNNY>S<ECKALIESNQT-ARWKNVKVNFDNVGLGYL1413
SCN3ANLFAGKFYHCVNMTTGNM---FDISDVNNL>S<DCQALGK--Q--ARWKNVKVNFDNVGAGYL1408
SCN4ANLFAGKFYYCINTTTSER---FDISEVNNK>S<ECESLMHTGQ--VRWLNVKVNYDNVGLGYL1235
SCN5ANLFAGKFGRCINQTEGDL-P-LNYTIVNNK>S<QCESLNLTGE--LYWTKVKVNFDNVGAGYL1410
SCN7ADLFAGRFYECIDPTSGER---FPSSEVMNK>S<RCESLLFNES--MLWENAKMNFDNVGNGFL1133
SCN8ANLFAGKYHYCFNETSEIR---FEIEDVNNK>T<ECEKLMEGNNTEIRWKNVKINFDNVGAGYL1404
SCN9ANLFAGKFYECINTTDGSR---FPASQVPNR>S<ECFALMNVSQN-VRWKNLKVNFDNVGLGYL1386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1079Rc.3235G>A Putative BenignSIFT:
Polyphen: