Paralogue Annotation for CACNA1C residue 1053

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1053
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1053

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1358WBrugada syndromeHigh9 20129283
SCN1AG1371VDravet syndromeHigh9 24656210

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.



CACNA1CFVAIRTIGNIVIVTTLLQFMFACIGVQLFK>G<KLYTCSDSSKQTEAECKGNYITYKDGEVDH1083
CACNA1AVNSLKNVFNILIVYMLFMFIFAVVAVQLFK>G<KFFHCTDESKEFEKDCRGKYLLYEKNEVK-1430
CACNA1BVNSLKNVLNILIVYMLFMFIFAVIAVQLFK>G<KFFYCTDESKELERDCRGQYLDYEKEEVE-1336
CACNA1DFVAIRTIGNIMIVTTLLQFMFACIGVQLFK>G<KFYRCTDEAKSNPEECRGLFILYKDGDVDS1089
CACNA1EVTSLKNVFNILIVYKLFMFIFAVIAVQLFK>G<KFFYCTDSSKDTEKECIGNYVDHEKNKME-1342
CACNA1FFVAIRTIGNIMIVTTLLQFMFACIGVQLFK>G<KFYTCTDEAKHTPQECKGSFLVYPDGDVSR1054
CACNA1GMSSLKPIGNIVVICCAFFIIFGILGVQLFK>G<KFFVCQGED---------TRNITNKSDCA-1456
CACNA1HISSLRPIGNIVLICCAFFIIFGILGVQLFK>G<KFYYCEGPD---------TRNISTKAQCR-1474
CACNA1IISSLKPIGNIVLICCAFFIIFGILGVQLFK>G<KFYHCLGVD---------TRNITNRSDCM-1350
CACNA1SFVAISTIGNIVLVTTLLQFMFACIGVQLFK>G<KFFRCTDLSKMTEEECRGYYYVYKDGDPMQ982
SCN10AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFWRCINYTDGEF-SLVPLSIVNNKSDCKI1334
SCN11AIGAIPAILNVLLVCLIFWLVFCILGVYFFS>G<KFGKCINGTDSVI----NYTIITNKSQCES1228
SCN1ALGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYHCINTTTGDR---FDIEDVNNHTDCLK1398
SCN2ALGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYHCINYTTGEM---FDVSVVNNYSECKA1388
SCN3AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYHCVNMTTGNM---FDISDVNNLSDCQA1386
SCN4ALGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYYCINTTTSER---FDISEVNNKSECES1211
SCN5AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFGRCINQTEGDL-P-LNYTIVNNKSQCES1386
SCN7AIKTTLPTLNVFLVCLMIWLIFSIMGVDLFA>G<RFYECIDPTSGER---FPSSEVMNKSRCES1109
SCN8AVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KYHYCFNETSEIR---FEIEDVNNKTECEK1378
SCN9AIGAIPSIMNVLLVCLIFWLIFSIMGVNLFA>G<KFYECINTTDGSR---FPASQVPNRSECFA1361
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1053 for CACNA1C.