Paralogue Annotation for CACNA1C residue 1064

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1064
Reference Amino Acid: Q - Glutamine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1064

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1382RGeneralized epilepsy with febrile seizures plusMedium6 23158734

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.



CACNA1CIVTTLLQFMFACIGVQLFKGKLYTCSDSSK>Q<TEAECKGNYITYKDGEVDHP-IIQ--PRSW1091
CACNA1AIVYMLFMFIFAVVAVQLFKGKFFHCTDESK>E<FEKDCRGKYLLYEKNEVK----AR--DREW1436
CACNA1BIVYMLFMFIFAVIAVQLFKGKFFYCTDESK>E<LERDCRGQYLDYEKEEVE----AQ--PRQW1342
CACNA1DIVTTLLQFMFACIGVQLFKGKFYRCTDEAK>S<NPEECRGLFILYKDGDVDSP-VVR--ERIW1097
CACNA1EIVYKLFMFIFAVIAVQLFKGKFFYCTDSSK>D<TEKECIGNYVDHEKNKME----VK--GREW1348
CACNA1FIVTTLLQFMFACIGVQLFKGKFYTCTDEAK>H<TPQECKGSFLVYPDGDVSRP-LVR--ERLW1062
CACNA1GVICCAFFIIFGILGVQLFKGKFFVCQGED->-<-------TRNITNKSDCA----EA--SYRW1462
CACNA1HLICCAFFIIFGILGVQLFKGKFYYCEGPD->-<-------TRNISTKAQCR----AA--HYRW1480
CACNA1ILICCAFFIIFGILGVQLFKGKFYHCLGVD->-<-------TRNITNRSDCM----AA--NYRW1356
CACNA1SLVTTLLQFMFACIGVQLFKGKFFRCTDLSK>M<TEEECRGYYYVYKDGDPMQI-ELR--HREW990
SCN10ALVCLIFWLIFSIMGVNLFAGKFWRCINYTD>G<EF-SLVPLSIVNNKSDCKIQNSTGS--FFW1343
SCN11ALVCLIFWLVFCILGVYFFSGKFGKCINGTD>S<VI----NYTIITNKSQCESGN------FSW1233
SCN1ALVCLIFWLIFSIMGVNLFAGKFYHCINTTT>G<DR---FDIEDVNNHTDCLKLIERNET-ARW1408
SCN2ALVCLIFWLIFSIMGVNLFAGKFYHCINYTT>G<EM---FDVSVVNNYSECKALIESNQT-ARW1398
SCN3ALVCLIFWLIFSIMGVNLFAGKFYHCVNMTT>G<NM---FDISDVNNLSDCQALGK--Q--ARW1393
SCN4ALVCLIFWLIFSIMGVNLFAGKFYYCINTTT>S<ER---FDISEVNNKSECESLMHTGQ--VRW1220
SCN5ALVCLIFWLIFSIMGVNLFAGKFGRCINQTE>G<DL-P-LNYTIVNNKSQCESLNLTGE--LYW1395
SCN7ALVCLMIWLIFSIMGVDLFAGRFYECIDPTS>G<ER---FPSSEVMNKSRCESLLFNES--MLW1118
SCN8ALVCLIFWLIFSIMGVNLFAGKYHYCFNETS>E<IR---FEIEDVNNKTECEKLMEGNNTEIRW1389
SCN9ALVCLIFWLIFSIMGVNLFAGKFYECINTTD>G<SR---FPASQVPNRSECFALMNVSQN-VRW1371
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1064 for CACNA1C.