Paralogue Annotation for CACNA1C residue 1019

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1019
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1019

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AF1368LNystagmus and late-onset ataxiaMedium9 19182766

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.



CACNA1CSAINVVKILRVLRVLRPLRAINRAKGLKHV>V<QCVFVAIRTIGNIVIVTTLLQFMFACIGVQ1049
CACNA1AKDINTIKSLRVLRVLRPLKTIKRLPKLKAV>F<DCVVNSLKNVFNILIVYMLFMFIFAVVAVQ1397
CACNA1BKDINTIKSLRVLRVLRPLKTIKRLPKLKAV>F<DCVVNSLKNVLNILIVYMLFMFIFAVIAVQ1303
CACNA1DSAISVVKILRVLRVLRPLRAINRAKGLKHV>V<QCVFVAIRTIGNIMIVTTLLQFMFACIGVQ1055
CACNA1ERDIKTIKSLRVLRVLRPLKTIKRLPKLKAV>F<DCVVTSLKNVFNILIVYKLFMFIFAVIAVQ1309
CACNA1FSAISVVKILRVLRVLRPLRAINRAKGLKHV>V<QCVFVAIRTIGNIMIVTTLLQFMFACIGVQ1020
CACNA1GKILGMLRVLRLLRTLRPLRVISRAQGLKLV>V<ETLMSSLKPIGNIVVICCAFFIIFGILGVQ1432
CACNA1HKILGVLRVLRLLRTLRPLRVISRAPGLKLV>V<ETLISSLRPIGNIVLICCAFFIIFGILGVQ1450
CACNA1IKILGVLRVLRLLRTLRPLRVISRAPGLKLV>V<ETLISSLKPIGNIVLICCAFFIIFGILGVQ1326
CACNA1SSAISVVKILRVLRVLRPLRAINRAKGLKHV>V<QCMFVAISTIGNIVLVTTLLQFMFACIGVQ948
SCN10ASEVAPIKALRTLRALRPLRALSRFEGMRVV>V<DALVGAIPSIMNVLLVCLIFWLIFSIMGVN1301
SCN11A--LMELKSFRTLRALRPLRALSQFEGMKVV>V<NALIGAIPAILNVLLVCLIFWLVFCILGVY1198
SCN1ASELGAIKSLRTLRALRPLRALSRFEGMRVV>V<NALLGAIPSIMNVLLVCLIFWLIFSIMGVN1367
SCN2ASELGAIKSLRTLRALRPLRALSRFEGMRVV>V<NALLGAIPSIMNVLLVCLIFWLIFSIMGVN1357
SCN3ASELGAIKSLRTLRALRPLRALSRFEGMRVV>V<NALVGAIPSIMNVLLVCLIFWLIFSIMGVN1355
SCN4ASELGPIKSLRTLRALRPLRALSRFEGMRVV>V<NALLGAIPSIMNVLLVCLIFWLIFSIMGVN1180
SCN5AAEMGPIKSLRTLRALRPLRALSRFEGMRVV>V<NALVGAIPSIMNVLLVCLIFWLIFSIMGVN1354
SCN7A-E---LKPLISMKFLRPLRVLSQFERMKVV>V<RALIKTTLPTLNVFLVCLMIWLIFSIMGVD1078
SCN8ASELGAIKSLRTLRALRPLRALSRFEGMRVV>V<NALVGAIPSIMNVLLVCLIFWLIFSIMGVN1347
SCN9ASDLGPIKSLRTLRALRPLRALSRFEGMRVV>V<NALIGAIPSIMNVLLVCLIFWLIFSIMGVN1330
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1019 for CACNA1C.