Paralogue Annotation for CACNA1C residue 1058

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1058
Reference Amino Acid: C - Cysteine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1058

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AC1363YBrugada syndromeHigh9 16764707
SCN1AC1376RIntractable epilepsyHigh9 23195492

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.



CACNA1CTIGNIVIVTTLLQFMFACIGVQLFKGKLYT>C<SDSSKQTEAECKGNYITYKDGEVDHP-IIQ1087
CACNA1ANVFNILIVYMLFMFIFAVVAVQLFKGKFFH>C<TDESKEFEKDCRGKYLLYEKNEVK----AR1432
CACNA1BNVLNILIVYMLFMFIFAVIAVQLFKGKFFY>C<TDESKELERDCRGQYLDYEKEEVE----AQ1338
CACNA1DTIGNIMIVTTLLQFMFACIGVQLFKGKFYR>C<TDEAKSNPEECRGLFILYKDGDVDSP-VVR1093
CACNA1ENVFNILIVYKLFMFIFAVIAVQLFKGKFFY>C<TDSSKDTEKECIGNYVDHEKNKME----VK1344
CACNA1FTIGNIMIVTTLLQFMFACIGVQLFKGKFYT>C<TDEAKHTPQECKGSFLVYPDGDVSRP-LVR1058
CACNA1GPIGNIVVICCAFFIIFGILGVQLFKGKFFV>C<QGED---------TRNITNKSDCA----EA1458
CACNA1HPIGNIVLICCAFFIIFGILGVQLFKGKFYY>C<EGPD---------TRNISTKAQCR----AA1476
CACNA1IPIGNIVLICCAFFIIFGILGVQLFKGKFYH>C<LGVD---------TRNITNRSDCM----AA1352
CACNA1STIGNIVLVTTLLQFMFACIGVQLFKGKFFR>C<TDLSKMTEEECRGYYYVYKDGDPMQI-ELR986
SCN10ASIMNVLLVCLIFWLIFSIMGVNLFAGKFWR>C<INYTDGEF-SLVPLSIVNNKSDCKIQNSTG1339
SCN11AAILNVLLVCLIFWLVFCILGVYFFSGKFGK>C<INGTDSVI----NYTIITNKSQCESGN---1230
SCN1ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYH>C<INTTTGDR---FDIEDVNNHTDCLKLIERN1403
SCN2ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYH>C<INYTTGEM---FDVSVVNNYSECKALIESN1393
SCN3ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYH>C<VNMTTGNM---FDISDVNNLSDCQALGK--1389
SCN4ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYY>C<INTTTSER---FDISEVNNKSECESLMHTG1216
SCN5ASIMNVLLVCLIFWLIFSIMGVNLFAGKFGR>C<INQTEGDL-P-LNYTIVNNKSQCESLNLTG1391
SCN7APTLNVFLVCLMIWLIFSIMGVDLFAGRFYE>C<IDPTSGER---FPSSEVMNKSRCESLLFNE1114
SCN8ASIMNVLLVCLIFWLIFSIMGVNLFAGKYHY>C<FNETSEIR---FEIEDVNNKTECEKLMEGN1383
SCN9ASIMNVLLVCLIFWLIFSIMGVNLFAGKFYE>C<INTTDGSR---FPASQVPNRSECFALMNVS1366
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1058 for CACNA1C.