Paralogue Annotation for CACNA1C residue 1013

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1013
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1013

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AE1321KSeizures, benign infantileMedium9 25982755

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---IQSSAINVVKILRVLRVLRPLRAINRA>K<GLKHVVQCVFVAIRTIGNIVIVTTLLQFMF1043
CACNA1A---SKGKDINTIKSLRVLRVLRPLKTIKRL>P<KLKAVFDCVVNSLKNVFNILIVYMLFMFIF1391
CACNA1B---SKGKDINTIKSLRVLRVLRPLKTIKRL>P<KLKAVFDCVVNSLKNVLNILIVYMLFMFIF1297
CACNA1D---IQSSAISVVKILRVLRVLRPLRAINRA>K<GLKHVVQCVFVAIRTIGNIMIVTTLLQFMF1049
CACNA1ELGTNKGRDIKTIKSLRVLRVLRPLKTIKRL>P<KLKAVFDCVVTSLKNVFNILIVYKLFMFIF1303
CACNA1F---IHSSAISVVKILRVLRVLRPLRAINRA>K<GLKHVVQCVFVAIRTIGNIMIVTTLLQFMF1014
CACNA1GSD-SGTKILGMLRVLRLLRTLRPLRVISRA>Q<GLKLVVETLMSSLKPIGNIVVICCAFFIIF1426
CACNA1HSA-GGAKILGVLRVLRLLRTLRPLRVISRA>P<GLKLVVETLISSLRPIGNIVLICCAFFIIF1444
CACNA1ISA-GGAKILGVLRVLRLLRTLRPLRVISRA>P<GLKLVVETLISSLKPIGNIVLICCAFFIIF1320
CACNA1S---LESSAISVVKILRVLRVLRPLRAINRA>K<GLKHVVQCMFVAISTIGNIVLVTTLLQFMF942
SCN10A---LEYSEVAPIKALRTLRALRPLRALSRF>E<GMRVVVDALVGAIPSIMNVLLVCLIFWLIF1295
SCN11A----N---LMELKSFRTLRALRPLRALSQF>E<GMKVVVNALIGAIPAILNVLLVCLIFWLVF1192
SCN1A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALLGAIPSIMNVLLVCLIFWLIF1361
SCN2A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALLGAIPSIMNVLLVCLIFWLIF1351
SCN3A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALVGAIPSIMNVLLVCLIFWLIF1349
SCN4A---LGYSELGPIKSLRTLRALRPLRALSRF>E<GMRVVVNALLGAIPSIMNVLLVCLIFWLIF1174
SCN5A---LGFAEMGPIKSLRTLRALRPLRALSRF>E<GMRVVVNALVGAIPSIMNVLLVCLIFWLIF1348
SCN7A---RE--E---LKPLISMKFLRPLRVLSQF>E<RMKVVVRALIKTTLPTLNVFLVCLMIWLIF1072
SCN8A---LGYSELGAIKSLRTLRALRPLRALSRF>E<GMRVVVNALVGAIPSIMNVLLVCLIFWLIF1341
SCN9A---LGYSDLGPIKSLRTLRALRPLRALSRF>E<GMRVVVNALIGAIPSIMNVLLVCLIFWLIF1324
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1013 for CACNA1C.