Paralogue Annotation for CACNA1C residue 1060

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1060
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1060

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1378TDravet syndrome C ?Medium9 21248271
SCN1AN1378HDravet syndrome C ?Medium9 21248271
SCN5AN1365SBrugada syndromeMedium9 23973953

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.



CACNA1CGNIVIVTTLLQFMFACIGVQLFKGKLYTCS>D<SSKQTEAECKGNYITYKDGEVDHP-IIQ--1087
CACNA1AFNILIVYMLFMFIFAVVAVQLFKGKFFHCT>D<ESKEFEKDCRGKYLLYEKNEVK----AR--1432
CACNA1BLNILIVYMLFMFIFAVIAVQLFKGKFFYCT>D<ESKELERDCRGQYLDYEKEEVE----AQ--1338
CACNA1DGNIMIVTTLLQFMFACIGVQLFKGKFYRCT>D<EAKSNPEECRGLFILYKDGDVDSP-VVR--1093
CACNA1EFNILIVYKLFMFIFAVIAVQLFKGKFFYCT>D<SSKDTEKECIGNYVDHEKNKME----VK--1344
CACNA1FGNIMIVTTLLQFMFACIGVQLFKGKFYTCT>D<EAKHTPQECKGSFLVYPDGDVSRP-LVR--1058
CACNA1GGNIVVICCAFFIIFGILGVQLFKGKFFVCQ>G<ED---------TRNITNKSDCA----EA--1458
CACNA1HGNIVLICCAFFIIFGILGVQLFKGKFYYCE>G<PD---------TRNISTKAQCR----AA--1476
CACNA1IGNIVLICCAFFIIFGILGVQLFKGKFYHCL>G<VD---------TRNITNRSDCM----AA--1352
CACNA1SGNIVLVTTLLQFMFACIGVQLFKGKFFRCT>D<LSKMTEEECRGYYYVYKDGDPMQI-ELR--986
SCN10AMNVLLVCLIFWLIFSIMGVNLFAGKFWRCI>N<YTDGEF-SLVPLSIVNNKSDCKIQNSTGS-1340
SCN11ALNVLLVCLIFWLVFCILGVYFFSGKFGKCI>N<GTDSVI----NYTIITNKSQCESGN-----1230
SCN1AMNVLLVCLIFWLIFSIMGVNLFAGKFYHCI>N<TTTGDR---FDIEDVNNHTDCLKLIERNET1405
SCN2AMNVLLVCLIFWLIFSIMGVNLFAGKFYHCI>N<YTTGEM---FDVSVVNNYSECKALIESNQT1395
SCN3AMNVLLVCLIFWLIFSIMGVNLFAGKFYHCV>N<MTTGNM---FDISDVNNLSDCQALGK--Q-1390
SCN4AMNVLLVCLIFWLIFSIMGVNLFAGKFYYCI>N<TTTSER---FDISEVNNKSECESLMHTGQ-1217
SCN5AMNVLLVCLIFWLIFSIMGVNLFAGKFGRCI>N<QTEGDL-P-LNYTIVNNKSQCESLNLTGE-1392
SCN7ALNVFLVCLMIWLIFSIMGVDLFAGRFYECI>D<PTSGER---FPSSEVMNKSRCESLLFNES-1115
SCN8AMNVLLVCLIFWLIFSIMGVNLFAGKYHYCF>N<ETSEIR---FEIEDVNNKTECEKLMEGNNT1385
SCN9AMNVLLVCLIFWLIFSIMGVNLFAGKFYECI>N<TTDGSR---FPASQVPNRSECFALMNVSQN1368
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1060 for CACNA1C.