Paralogue Annotation for CACNA1C residue 1021

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1021
Reference Amino Acid: C - Cysteine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1021

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AC1370YHemiplegic migraineHigh9 17142831, 21768184
SCN5AA1326SLong QT syndromeMedium9 19716085
SCN4AA1152DParamyotonia congenitaMedium9 15790667
SCN1AA1339VMyoclonic epilepsy of infancyMedium9 23195492, 22092154

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.



CACNA1CINVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<VFVAIRTIGNIVIVTTLLQFMFACIGVQLF1051
CACNA1AINTIKSLRVLRVLRPLKTIKRLPKLKAVFD>C<VVNSLKNVFNILIVYMLFMFIFAVVAVQLF1399
CACNA1BINTIKSLRVLRVLRPLKTIKRLPKLKAVFD>C<VVNSLKNVLNILIVYMLFMFIFAVIAVQLF1305
CACNA1DISVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<VFVAIRTIGNIMIVTTLLQFMFACIGVQLF1057
CACNA1EIKTIKSLRVLRVLRPLKTIKRLPKLKAVFD>C<VVTSLKNVFNILIVYKLFMFIFAVIAVQLF1311
CACNA1FISVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<VFVAIRTIGNIMIVTTLLQFMFACIGVQLF1022
CACNA1GLGMLRVLRLLRTLRPLRVISRAQGLKLVVE>T<LMSSLKPIGNIVVICCAFFIIFGILGVQLF1434
CACNA1HLGVLRVLRLLRTLRPLRVISRAPGLKLVVE>T<LISSLRPIGNIVLICCAFFIIFGILGVQLF1452
CACNA1ILGVLRVLRLLRTLRPLRVISRAPGLKLVVE>T<LISSLKPIGNIVLICCAFFIIFGILGVQLF1328
CACNA1SISVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<MFVAISTIGNIVLVTTLLQFMFACIGVQLF950
SCN10AVAPIKALRTLRALRPLRALSRFEGMRVVVD>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF1303
SCN11ALMELKSFRTLRALRPLRALSQFEGMKVVVN>A<LIGAIPAILNVLLVCLIFWLVFCILGVYFF1200
SCN1ALGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LLGAIPSIMNVLLVCLIFWLIFSIMGVNLF1369
SCN2ALGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LLGAIPSIMNVLLVCLIFWLIFSIMGVNLF1359
SCN3ALGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF1357
SCN4ALGPIKSLRTLRALRPLRALSRFEGMRVVVN>A<LLGAIPSIMNVLLVCLIFWLIFSIMGVNLF1182
SCN5AMGPIKSLRTLRALRPLRALSRFEGMRVVVN>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF1356
SCN7A---LKPLISMKFLRPLRVLSQFERMKVVVR>A<LIKTTLPTLNVFLVCLMIWLIFSIMGVDLF1080
SCN8ALGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF1349
SCN9ALGPIKSLRTLRALRPLRALSRFEGMRVVVN>A<LIGAIPSIMNVLLVCLIFWLIFSIMGVNLF1332
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1021 for CACNA1C.