Paralogue Annotation for CACNA1C residue 1049

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1049
Reference Amino Acid: Q - Glutamine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1049

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1367KDravet syndromeMedium9 18930999, 20522430
SCN4AN1180IMyotonia, neonatal-onsetMedium9 25735906

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.



CACNA1CVQCVFVAIRTIGNIVIVTTLLQFMFACIGV>Q<LFKGKLYTCSDSSKQTEAECKGNYITYKDG1079
CACNA1AFDCVVNSLKNVFNILIVYMLFMFIFAVVAV>Q<LFKGKFFHCTDESKEFEKDCRGKYLLYEKN1427
CACNA1BFDCVVNSLKNVLNILIVYMLFMFIFAVIAV>Q<LFKGKFFYCTDESKELERDCRGQYLDYEKE1333
CACNA1DVQCVFVAIRTIGNIMIVTTLLQFMFACIGV>Q<LFKGKFYRCTDEAKSNPEECRGLFILYKDG1085
CACNA1EFDCVVTSLKNVFNILIVYKLFMFIFAVIAV>Q<LFKGKFFYCTDSSKDTEKECIGNYVDHEKN1339
CACNA1FVQCVFVAIRTIGNIMIVTTLLQFMFACIGV>Q<LFKGKFYTCTDEAKHTPQECKGSFLVYPDG1050
CACNA1GVETLMSSLKPIGNIVVICCAFFIIFGILGV>Q<LFKGKFFVCQGED---------TRNITNKS1453
CACNA1HVETLISSLRPIGNIVLICCAFFIIFGILGV>Q<LFKGKFYYCEGPD---------TRNISTKA1471
CACNA1IVETLISSLKPIGNIVLICCAFFIIFGILGV>Q<LFKGKFYHCLGVD---------TRNITNRS1347
CACNA1SVQCMFVAISTIGNIVLVTTLLQFMFACIGV>Q<LFKGKFFRCTDLSKMTEEECRGYYYVYKDG978
SCN10AVDALVGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKFWRCINYTDGEF-SLVPLSIVNNKS1330
SCN11AVNALIGAIPAILNVLLVCLIFWLVFCILGV>Y<FFSGKFGKCINGTDSVI----NYTIITNKS1224
SCN1AVNALLGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKFYHCINTTTGDR---FDIEDVNNHT1394
SCN2AVNALLGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKFYHCINYTTGEM---FDVSVVNNYS1384
SCN3AVNALVGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKFYHCVNMTTGNM---FDISDVNNLS1382
SCN4AVNALLGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKFYYCINTTTSER---FDISEVNNKS1207
SCN5AVNALVGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKFGRCINQTEGDL-P-LNYTIVNNKS1382
SCN7AVRALIKTTLPTLNVFLVCLMIWLIFSIMGV>D<LFAGRFYECIDPTSGER---FPSSEVMNKS1105
SCN8AVNALVGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKYHYCFNETSEIR---FEIEDVNNKT1374
SCN9AVNALIGAIPSIMNVLLVCLIFWLIFSIMGV>N<LFAGKFYECINTTDGSR---FPASQVPNRS1357
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1049 for CACNA1C.