Paralogue Annotation for CACNA1C residue 1010

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1010
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1010

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS1328PDravet syndromeMedium9 18930999, 23195492, 25525159

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.



CACNA1C-G----IQSSAINVVKILRVLRVLRPLRAI>N<RAKGLKHVVQCVFVAIRTIGNIVIVTTLLQ1040
CACNA1AGN----SKGKDINTIKSLRVLRVLRPLKTI>K<RLPKLKAVFDCVVNSLKNVFNILIVYMLFM1388
CACNA1B-G----SKGKDINTIKSLRVLRVLRPLKTI>K<RLPKLKAVFDCVVNSLKNVLNILIVYMLFM1294
CACNA1D-G----IQSSAISVVKILRVLRVLRPLRAI>N<RAKGLKHVVQCVFVAIRTIGNIMIVTTLLQ1046
CACNA1ENA-LGTNKGRDIKTIKSLRVLRVLRPLKTI>K<RLPKLKAVFDCVVTSLKNVFNILIVYKLFM1300
CACNA1F-G----IHSSAISVVKILRVLRVLRPLRAI>N<RAKGLKHVVQCVFVAIRTIGNIMIVTTLLQ1011
CACNA1G-MVSD-SGTKILGMLRVLRLLRTLRPLRVI>S<RAQGLKLVVETLMSSLKPIGNIVVICCAFF1423
CACNA1H-MASA-GGAKILGVLRVLRLLRTLRPLRVI>S<RAPGLKLVVETLISSLRPIGNIVLICCAFF1441
CACNA1I-LASA-GGAKILGVLRVLRLLRTLRPLRVI>S<RAPGLKLVVETLISSLKPIGNIVLICCAFF1317
CACNA1S-G----LESSAISVVKILRVLRVLRPLRAI>N<RAKGLKHVVQCMFVAISTIGNIVLVTTLLQ939
SCN10A-I----LEYSEVAPIKALRTLRALRPLRAL>S<RFEGMRVVVDALVGAIPSIMNVLLVCLIFW1292
SCN11A-------N---LMELKSFRTLRALRPLRAL>S<QFEGMKVVVNALIGAIPAILNVLLVCLIFW1189
SCN1A-A----LGYSELGAIKSLRTLRALRPLRAL>S<RFEGMRVVVNALLGAIPSIMNVLLVCLIFW1358
SCN2A-A----LGYSELGAIKSLRTLRALRPLRAL>S<RFEGMRVVVNALLGAIPSIMNVLLVCLIFW1348
SCN3A-A----LGYSELGAIKSLRTLRALRPLRAL>S<RFEGMRVVVNALVGAIPSIMNVLLVCLIFW1346
SCN4A-W----LGYSELGPIKSLRTLRALRPLRAL>S<RFEGMRVVVNALLGAIPSIMNVLLVCLIFW1171
SCN5A-T----LGFAEMGPIKSLRTLRALRPLRAL>S<RFEGMRVVVNALVGAIPSIMNVLLVCLIFW1345
SCN7A-T----RE--E---LKPLISMKFLRPLRVL>S<QFERMKVVVRALIKTTLPTLNVFLVCLMIW1069
SCN8A-A----LGYSELGAIKSLRTLRALRPLRAL>S<RFEGMRVVVNALVGAIPSIMNVLLVCLIFW1338
SCN9A-T----LGYSDLGPIKSLRTLRALRPLRAL>S<RFEGMRVVVNALIGAIPSIMNVLLVCLIFW1321
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1010 for CACNA1C.