Paralogue Annotation for CACNA1C residue 1075

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1075
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1075

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1390MMyoclonic epilepsy of infancyMedium4 12083760, 22780858
SCN1AV1390LGeneralised epilepsy with febrile seizures plus 2Medium4 21775168, 26096185
SCN5AV1378MBrugada syndromeMedium4 22529811

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.



CACNA1CCIGVQLFKGKLYTCSDSSKQTEAECKGNYI>T<YKDGEVDHP-IIQ--PRSWENSKFDFDNVL1102
CACNA1AVVAVQLFKGKFFHCTDESKEFEKDCRGKYL>L<YEKNEVK----AR--DREWKKYEFHYDNVL1447
CACNA1BVIAVQLFKGKFFYCTDESKELERDCRGQYL>D<YEKEEVE----AQ--PRQWKKYDFHYDNVL1353
CACNA1DCIGVQLFKGKFYRCTDEAKSNPEECRGLFI>L<YKDGDVDSP-VVR--ERIWQNSDFNFDNVL1108
CACNA1EVIAVQLFKGKFFYCTDSSKDTEKECIGNYV>D<HEKNKME----VK--GREWKRHEFHYDNII1359
CACNA1FCIGVQLFKGKFYTCTDEAKHTPQECKGSFL>V<YPDGDVSRP-LVR--ERLWVNSDFNFDNVL1073
CACNA1GILGVQLFKGKFFVCQGED---------TRN>I<TNKSDCA----EA--SYRWVRHKYNFDNLG1473
CACNA1HILGVQLFKGKFYYCEGPD---------TRN>I<STKAQCR----AA--HYRWVRRKYNFDNLG1491
CACNA1IILGVQLFKGKFYHCLGVD---------TRN>I<TNRSDCM----AA--NYRWVHHKYNFDNLG1367
CACNA1SCIGVQLFKGKFFRCTDLSKMTEEECRGYYY>V<YKDGDPMQI-ELR--HREWVHSDFHFDNVL1001
SCN10AIMGVNLFAGKFWRCINYTDGEF-SLVPLSI>V<NNKSDCKIQNSTGS--FFWVNVKVNFDNVA1354
SCN11AILGVYFFSGKFGKCINGTDSVI----NYTI>I<TNKSQCESGN------FSWINQKVNFDNVG1244
SCN1AIMGVNLFAGKFYHCINTTTGDR---FDIED>V<NNHTDCLKLIERNET-ARWKNVKVNFDNVG1419
SCN2AIMGVNLFAGKFYHCINYTTGEM---FDVSV>V<NNYSECKALIESNQT-ARWKNVKVNFDNVG1409
SCN3AIMGVNLFAGKFYHCVNMTTGNM---FDISD>V<NNLSDCQALGK--Q--ARWKNVKVNFDNVG1404
SCN4AIMGVNLFAGKFYYCINTTTSER---FDISE>V<NNKSECESLMHTGQ--VRWLNVKVNYDNVG1231
SCN5AIMGVNLFAGKFGRCINQTEGDL-P-LNYTI>V<NNKSQCESLNLTGE--LYWTKVKVNFDNVG1406
SCN7AIMGVDLFAGRFYECIDPTSGER---FPSSE>V<MNKSRCESLLFNES--MLWENAKMNFDNVG1129
SCN8AIMGVNLFAGKYHYCFNETSEIR---FEIED>V<NNKTECEKLMEGNNTEIRWKNVKINFDNVG1400
SCN9AIMGVNLFAGKFYECINTTDGSR---FPASQ>V<PNRSECFALMNVSQN-VRWKNLKVNFDNVG1382
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T1075Mc.3224C>T Putative BenignSIFT:
Polyphen: