Paralogue Annotation for CACNA1C residue 1048

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1048
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1048

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1353MBrugada syndromeHigh9 20129283, 24136861
SCN1AV1366IGeneralized epilepsy with febrile seizures plusHigh9 17507202, 25576396

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.



CACNA1CVVQCVFVAIRTIGNIVIVTTLLQFMFACIG>V<QLFKGKLYTCSDSSKQTEAECKGNYITYKD1078
CACNA1AVFDCVVNSLKNVFNILIVYMLFMFIFAVVA>V<QLFKGKFFHCTDESKEFEKDCRGKYLLYEK1426
CACNA1BVFDCVVNSLKNVLNILIVYMLFMFIFAVIA>V<QLFKGKFFYCTDESKELERDCRGQYLDYEK1332
CACNA1DVVQCVFVAIRTIGNIMIVTTLLQFMFACIG>V<QLFKGKFYRCTDEAKSNPEECRGLFILYKD1084
CACNA1EVFDCVVTSLKNVFNILIVYKLFMFIFAVIA>V<QLFKGKFFYCTDSSKDTEKECIGNYVDHEK1338
CACNA1FVVQCVFVAIRTIGNIMIVTTLLQFMFACIG>V<QLFKGKFYTCTDEAKHTPQECKGSFLVYPD1049
CACNA1GVVETLMSSLKPIGNIVVICCAFFIIFGILG>V<QLFKGKFFVCQGED---------TRNITNK1452
CACNA1HVVETLISSLRPIGNIVLICCAFFIIFGILG>V<QLFKGKFYYCEGPD---------TRNISTK1470
CACNA1IVVETLISSLKPIGNIVLICCAFFIIFGILG>V<QLFKGKFYHCLGVD---------TRNITNR1346
CACNA1SVVQCMFVAISTIGNIVLVTTLLQFMFACIG>V<QLFKGKFFRCTDLSKMTEEECRGYYYVYKD977
SCN10AVVDALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFWRCINYTDGEF-SLVPLSIVNNK1329
SCN11AVVNALIGAIPAILNVLLVCLIFWLVFCILG>V<YFFSGKFGKCINGTDSVI----NYTIITNK1223
SCN1AVVNALLGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYHCINTTTGDR---FDIEDVNNH1393
SCN2AVVNALLGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYHCINYTTGEM---FDVSVVNNY1383
SCN3AVVNALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYHCVNMTTGNM---FDISDVNNL1381
SCN4AVVNALLGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYYCINTTTSER---FDISEVNNK1206
SCN5AVVNALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFGRCINQTEGDL-P-LNYTIVNNK1381
SCN7AVVRALIKTTLPTLNVFLVCLMIWLIFSIMG>V<DLFAGRFYECIDPTSGER---FPSSEVMNK1104
SCN8AVVNALVGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKYHYCFNETSEIR---FEIEDVNNK1373
SCN9AVVNALIGAIPSIMNVLLVCLIFWLIFSIMG>V<NLFAGKFYECINTTDGSR---FPASQVPNR1356
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1048 for CACNA1C.