Paralogue Annotation for CACNA1C residue 1047

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1047
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1047

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG1018RNight blindness, congenital stationary, incompleteHigh9 12111638, 17949918, 23714322
SCN10AG1299ABrugada syndromeHigh9 25691538

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.



CACNA1CHVVQCVFVAIRTIGNIVIVTTLLQFMFACI>G<VQLFKGKLYTCSDSSKQTEAECKGNYITYK1077
CACNA1AAVFDCVVNSLKNVFNILIVYMLFMFIFAVV>A<VQLFKGKFFHCTDESKEFEKDCRGKYLLYE1425
CACNA1BAVFDCVVNSLKNVLNILIVYMLFMFIFAVI>A<VQLFKGKFFYCTDESKELERDCRGQYLDYE1331
CACNA1DHVVQCVFVAIRTIGNIMIVTTLLQFMFACI>G<VQLFKGKFYRCTDEAKSNPEECRGLFILYK1083
CACNA1EAVFDCVVTSLKNVFNILIVYKLFMFIFAVI>A<VQLFKGKFFYCTDSSKDTEKECIGNYVDHE1337
CACNA1FHVVQCVFVAIRTIGNIMIVTTLLQFMFACI>G<VQLFKGKFYTCTDEAKHTPQECKGSFLVYP1048
CACNA1GLVVETLMSSLKPIGNIVVICCAFFIIFGIL>G<VQLFKGKFFVCQGED---------TRNITN1451
CACNA1HLVVETLISSLRPIGNIVLICCAFFIIFGIL>G<VQLFKGKFYYCEGPD---------TRNIST1469
CACNA1ILVVETLISSLKPIGNIVLICCAFFIIFGIL>G<VQLFKGKFYHCLGVD---------TRNITN1345
CACNA1SHVVQCMFVAISTIGNIVLVTTLLQFMFACI>G<VQLFKGKFFRCTDLSKMTEEECRGYYYVYK976
SCN10AVVVDALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFWRCINYTDGEF-SLVPLSIVNN1328
SCN11AVVVNALIGAIPAILNVLLVCLIFWLVFCIL>G<VYFFSGKFGKCINGTDSVI----NYTIITN1222
SCN1AVVVNALLGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYHCINTTTGDR---FDIEDVNN1392
SCN2AVVVNALLGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYHCINYTTGEM---FDVSVVNN1382
SCN3AVVVNALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYHCVNMTTGNM---FDISDVNN1380
SCN4AVVVNALLGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYYCINTTTSER---FDISEVNN1205
SCN5AVVVNALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFGRCINQTEGDL-P-LNYTIVNN1380
SCN7AVVVRALIKTTLPTLNVFLVCLMIWLIFSIM>G<VDLFAGRFYECIDPTSGER---FPSSEVMN1103
SCN8AVVVNALVGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKYHYCFNETSEIR---FEIEDVNN1372
SCN9AVVVNALIGAIPSIMNVLLVCLIFWLIFSIM>G<VNLFAGKFYECINTTDGSR---FPASQVPN1355
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1047 for CACNA1C.