Paralogue Annotation for CACNA1C residue 1052

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1052
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1052

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1370PDravet syndrome B ?Medium9 21248271
SCN10AA1304TPeripheral neuropathy, painfulMedium9 23115331
SCN5AA1357VLong QT syndromeMedium9 23631430, 27153395

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.



CACNA1CVFVAIRTIGNIVIVTTLLQFMFACIGVQLF>K<GKLYTCSDSSKQTEAECKGNYITYKDGEVD1082
CACNA1AVVNSLKNVFNILIVYMLFMFIFAVVAVQLF>K<GKFFHCTDESKEFEKDCRGKYLLYEKNEVK1430
CACNA1BVVNSLKNVLNILIVYMLFMFIFAVIAVQLF>K<GKFFYCTDESKELERDCRGQYLDYEKEEVE1336
CACNA1DVFVAIRTIGNIMIVTTLLQFMFACIGVQLF>K<GKFYRCTDEAKSNPEECRGLFILYKDGDVD1088
CACNA1EVVTSLKNVFNILIVYKLFMFIFAVIAVQLF>K<GKFFYCTDSSKDTEKECIGNYVDHEKNKME1342
CACNA1FVFVAIRTIGNIMIVTTLLQFMFACIGVQLF>K<GKFYTCTDEAKHTPQECKGSFLVYPDGDVS1053
CACNA1GLMSSLKPIGNIVVICCAFFIIFGILGVQLF>K<GKFFVCQGED---------TRNITNKSDCA1456
CACNA1HLISSLRPIGNIVLICCAFFIIFGILGVQLF>K<GKFYYCEGPD---------TRNISTKAQCR1474
CACNA1ILISSLKPIGNIVLICCAFFIIFGILGVQLF>K<GKFYHCLGVD---------TRNITNRSDCM1350
CACNA1SMFVAISTIGNIVLVTTLLQFMFACIGVQLF>K<GKFFRCTDLSKMTEEECRGYYYVYKDGDPM981
SCN10ALVGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKFWRCINYTDGEF-SLVPLSIVNNKSDCK1333
SCN11ALIGAIPAILNVLLVCLIFWLVFCILGVYFF>S<GKFGKCINGTDSVI----NYTIITNKSQCE1227
SCN1ALLGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKFYHCINTTTGDR---FDIEDVNNHTDCL1397
SCN2ALLGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKFYHCINYTTGEM---FDVSVVNNYSECK1387
SCN3ALVGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKFYHCVNMTTGNM---FDISDVNNLSDCQ1385
SCN4ALLGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKFYYCINTTTSER---FDISEVNNKSECE1210
SCN5ALVGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKFGRCINQTEGDL-P-LNYTIVNNKSQCE1385
SCN7ALIKTTLPTLNVFLVCLMIWLIFSIMGVDLF>A<GRFYECIDPTSGER---FPSSEVMNKSRCE1108
SCN8ALVGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKYHYCFNETSEIR---FEIEDVNNKTECE1377
SCN9ALIGAIPSIMNVLLVCLIFWLIFSIMGVNLF>A<GKFYECINTTDGSR---FPASQVPNRSECF1360
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1052 for CACNA1C.