Paralogue Annotation for CACNA1C residue 1062

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1062
Reference Amino Acid: S - Serine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1062

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HD1463NEpilepsy, childhood absenceMedium8 12891677, 14729682

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.



CACNA1CIVIVTTLLQFMFACIGVQLFKGKLYTCSDS>S<KQTEAECKGNYITYKDGEVDHP-IIQ--PR1089
CACNA1AILIVYMLFMFIFAVVAVQLFKGKFFHCTDE>S<KEFEKDCRGKYLLYEKNEVK----AR--DR1434
CACNA1BILIVYMLFMFIFAVIAVQLFKGKFFYCTDE>S<KELERDCRGQYLDYEKEEVE----AQ--PR1340
CACNA1DIMIVTTLLQFMFACIGVQLFKGKFYRCTDE>A<KSNPEECRGLFILYKDGDVDSP-VVR--ER1095
CACNA1EILIVYKLFMFIFAVIAVQLFKGKFFYCTDS>S<KDTEKECIGNYVDHEKNKME----VK--GR1346
CACNA1FIMIVTTLLQFMFACIGVQLFKGKFYTCTDE>A<KHTPQECKGSFLVYPDGDVSRP-LVR--ER1060
CACNA1GIVVICCAFFIIFGILGVQLFKGKFFVCQGE>D<---------TRNITNKSDCA----EA--SY1460
CACNA1HIVLICCAFFIIFGILGVQLFKGKFYYCEGP>D<---------TRNISTKAQCR----AA--HY1478
CACNA1IIVLICCAFFIIFGILGVQLFKGKFYHCLGV>D<---------TRNITNRSDCM----AA--NY1354
CACNA1SIVLVTTLLQFMFACIGVQLFKGKFFRCTDL>S<KMTEEECRGYYYVYKDGDPMQI-ELR--HR988
SCN10AVLLVCLIFWLIFSIMGVNLFAGKFWRCINY>T<DGEF-SLVPLSIVNNKSDCKIQNSTGS--F1341
SCN11AVLLVCLIFWLVFCILGVYFFSGKFGKCING>T<DSVI----NYTIITNKSQCESGN------F1231
SCN1AVLLVCLIFWLIFSIMGVNLFAGKFYHCINT>T<TGDR---FDIEDVNNHTDCLKLIERNET-A1406
SCN2AVLLVCLIFWLIFSIMGVNLFAGKFYHCINY>T<TGEM---FDVSVVNNYSECKALIESNQT-A1396
SCN3AVLLVCLIFWLIFSIMGVNLFAGKFYHCVNM>T<TGNM---FDISDVNNLSDCQALGK--Q--A1391
SCN4AVLLVCLIFWLIFSIMGVNLFAGKFYYCINT>T<TSER---FDISEVNNKSECESLMHTGQ--V1218
SCN5AVLLVCLIFWLIFSIMGVNLFAGKFGRCINQ>T<EGDL-P-LNYTIVNNKSQCESLNLTGE--L1393
SCN7AVFLVCLMIWLIFSIMGVDLFAGRFYECIDP>T<SGER---FPSSEVMNKSRCESLLFNES--M1116
SCN8AVLLVCLIFWLIFSIMGVNLFAGKYHYCFNE>T<SEIR---FEIEDVNNKTECEKLMEGNNTEI1387
SCN9AVLLVCLIFWLIFSIMGVNLFAGKFYECINT>T<DGSR---FPASQVPNRSECFALMNVSQN-V1369
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1062 for CACNA1C.