Paralogue Annotation for CACNA1C residue 1029

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1029
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1029

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI1334VLong QT syndromeHigh9 19716085
SCN4AI1160VHyperkalaemic periodic paralysisHigh9 1659948, 9336185
SCN8AI1327VEpileptic encephalopathy, multiple congenital anomHigh9 24352161, 25799905, 26993267

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.



CACNA1CVLRVLRPLRAINRAKGLKHVVQCVFVAIRT>I<GNIVIVTTLLQFMFACIGVQLFKGKLYTCS1059
CACNA1AVLRVLRPLKTIKRLPKLKAVFDCVVNSLKN>V<FNILIVYMLFMFIFAVVAVQLFKGKFFHCT1407
CACNA1BVLRVLRPLKTIKRLPKLKAVFDCVVNSLKN>V<LNILIVYMLFMFIFAVIAVQLFKGKFFYCT1313
CACNA1DVLRVLRPLRAINRAKGLKHVVQCVFVAIRT>I<GNIMIVTTLLQFMFACIGVQLFKGKFYRCT1065
CACNA1EVLRVLRPLKTIKRLPKLKAVFDCVVTSLKN>V<FNILIVYKLFMFIFAVIAVQLFKGKFFYCT1319
CACNA1FVLRVLRPLRAINRAKGLKHVVQCVFVAIRT>I<GNIMIVTTLLQFMFACIGVQLFKGKFYTCT1030
CACNA1GLLRTLRPLRVISRAQGLKLVVETLMSSLKP>I<GNIVVICCAFFIIFGILGVQLFKGKFFVCQ1442
CACNA1HLLRTLRPLRVISRAPGLKLVVETLISSLRP>I<GNIVLICCAFFIIFGILGVQLFKGKFYYCE1460
CACNA1ILLRTLRPLRVISRAPGLKLVVETLISSLKP>I<GNIVLICCAFFIIFGILGVQLFKGKFYHCL1336
CACNA1SVLRVLRPLRAINRAKGLKHVVQCMFVAIST>I<GNIVLVTTLLQFMFACIGVQLFKGKFFRCT958
SCN10ATLRALRPLRALSRFEGMRVVVDALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFWRCI1311
SCN11ATLRALRPLRALSQFEGMKVVVNALIGAIPA>I<LNVLLVCLIFWLVFCILGVYFFSGKFGKCI1208
SCN1ATLRALRPLRALSRFEGMRVVVNALLGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYHCI1377
SCN2ATLRALRPLRALSRFEGMRVVVNALLGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYHCI1367
SCN3ATLRALRPLRALSRFEGMRVVVNALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYHCV1365
SCN4ATLRALRPLRALSRFEGMRVVVNALLGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYYCI1190
SCN5ATLRALRPLRALSRFEGMRVVVNALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFGRCI1364
SCN7ASMKFLRPLRVLSQFERMKVVVRALIKTTLP>T<LNVFLVCLMIWLIFSIMGVDLFAGRFYECI1088
SCN8ATLRALRPLRALSRFEGMRVVVNALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKYHYCF1357
SCN9ATLRALRPLRALSRFEGMRVVVNALIGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYECI1340
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1029 for CACNA1C.