Paralogue Annotation for CACNA1C residue 1016

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1016
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1016

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AR1268QBrugada syndromeMedium9 24998131, 24998131, 25691538, 25691686

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.



CACNA1CIQSSAINVVKILRVLRVLRPLRAINRAKGL>K<HVVQCVFVAIRTIGNIVIVTTLLQFMFACI1046
CACNA1ASKGKDINTIKSLRVLRVLRPLKTIKRLPKL>K<AVFDCVVNSLKNVFNILIVYMLFMFIFAVV1394
CACNA1BSKGKDINTIKSLRVLRVLRPLKTIKRLPKL>K<AVFDCVVNSLKNVLNILIVYMLFMFIFAVI1300
CACNA1DIQSSAISVVKILRVLRVLRPLRAINRAKGL>K<HVVQCVFVAIRTIGNIMIVTTLLQFMFACI1052
CACNA1ENKGRDIKTIKSLRVLRVLRPLKTIKRLPKL>K<AVFDCVVTSLKNVFNILIVYKLFMFIFAVI1306
CACNA1FIHSSAISVVKILRVLRVLRPLRAINRAKGL>K<HVVQCVFVAIRTIGNIMIVTTLLQFMFACI1017
CACNA1GSGTKILGMLRVLRLLRTLRPLRVISRAQGL>K<LVVETLMSSLKPIGNIVVICCAFFIIFGIL1429
CACNA1HGGAKILGVLRVLRLLRTLRPLRVISRAPGL>K<LVVETLISSLRPIGNIVLICCAFFIIFGIL1447
CACNA1IGGAKILGVLRVLRLLRTLRPLRVISRAPGL>K<LVVETLISSLKPIGNIVLICCAFFIIFGIL1323
CACNA1SLESSAISVVKILRVLRVLRPLRAINRAKGL>K<HVVQCMFVAISTIGNIVLVTTLLQFMFACI945
SCN10ALEYSEVAPIKALRTLRALRPLRALSRFEGM>R<VVVDALVGAIPSIMNVLLVCLIFWLIFSIM1298
SCN11A-N---LMELKSFRTLRALRPLRALSQFEGM>K<VVVNALIGAIPAILNVLLVCLIFWLVFCIL1195
SCN1ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALLGAIPSIMNVLLVCLIFWLIFSIM1364
SCN2ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALLGAIPSIMNVLLVCLIFWLIFSIM1354
SCN3ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALVGAIPSIMNVLLVCLIFWLIFSIM1352
SCN4ALGYSELGPIKSLRTLRALRPLRALSRFEGM>R<VVVNALLGAIPSIMNVLLVCLIFWLIFSIM1177
SCN5ALGFAEMGPIKSLRTLRALRPLRALSRFEGM>R<VVVNALVGAIPSIMNVLLVCLIFWLIFSIM1351
SCN7ARE--E---LKPLISMKFLRPLRVLSQFERM>K<VVVRALIKTTLPTLNVFLVCLMIWLIFSIM1075
SCN8ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALVGAIPSIMNVLLVCLIFWLIFSIM1344
SCN9ALGYSDLGPIKSLRTLRALRPLRALSRFEGM>R<VVVNALIGAIPSIMNVLLVCLIFWLIFSIM1327
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1016 for CACNA1C.