Paralogue Annotation for CACNA1C residue 1022

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1022
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1022

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AL1330FNeonatal-infantile seizuresMedium9 12243921, 18479388

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.



CACNA1CNVVKILRVLRVLRPLRAINRAKGLKHVVQC>V<FVAIRTIGNIVIVTTLLQFMFACIGVQLFK1052
CACNA1ANTIKSLRVLRVLRPLKTIKRLPKLKAVFDC>V<VNSLKNVFNILIVYMLFMFIFAVVAVQLFK1400
CACNA1BNTIKSLRVLRVLRPLKTIKRLPKLKAVFDC>V<VNSLKNVLNILIVYMLFMFIFAVIAVQLFK1306
CACNA1DSVVKILRVLRVLRPLRAINRAKGLKHVVQC>V<FVAIRTIGNIMIVTTLLQFMFACIGVQLFK1058
CACNA1EKTIKSLRVLRVLRPLKTIKRLPKLKAVFDC>V<VTSLKNVFNILIVYKLFMFIFAVIAVQLFK1312
CACNA1FSVVKILRVLRVLRPLRAINRAKGLKHVVQC>V<FVAIRTIGNIMIVTTLLQFMFACIGVQLFK1023
CACNA1GGMLRVLRLLRTLRPLRVISRAQGLKLVVET>L<MSSLKPIGNIVVICCAFFIIFGILGVQLFK1435
CACNA1HGVLRVLRLLRTLRPLRVISRAPGLKLVVET>L<ISSLRPIGNIVLICCAFFIIFGILGVQLFK1453
CACNA1IGVLRVLRLLRTLRPLRVISRAPGLKLVVET>L<ISSLKPIGNIVLICCAFFIIFGILGVQLFK1329
CACNA1SSVVKILRVLRVLRPLRAINRAKGLKHVVQC>M<FVAISTIGNIVLVTTLLQFMFACIGVQLFK951
SCN10AAPIKALRTLRALRPLRALSRFEGMRVVVDA>L<VGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1304
SCN11AMELKSFRTLRALRPLRALSQFEGMKVVVNA>L<IGAIPAILNVLLVCLIFWLVFCILGVYFFS1201
SCN1AGAIKSLRTLRALRPLRALSRFEGMRVVVNA>L<LGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1370
SCN2AGAIKSLRTLRALRPLRALSRFEGMRVVVNA>L<LGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1360
SCN3AGAIKSLRTLRALRPLRALSRFEGMRVVVNA>L<VGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1358
SCN4AGPIKSLRTLRALRPLRALSRFEGMRVVVNA>L<LGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1183
SCN5AGPIKSLRTLRALRPLRALSRFEGMRVVVNA>L<VGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1357
SCN7A--LKPLISMKFLRPLRVLSQFERMKVVVRA>L<IKTTLPTLNVFLVCLMIWLIFSIMGVDLFA1081
SCN8AGAIKSLRTLRALRPLRALSRFEGMRVVVNA>L<VGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1350
SCN9AGPIKSLRTLRALRPLRALSRFEGMRVVVNA>L<IGAIPSIMNVLLVCLIFWLIFSIMGVNLFA1333
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1022Mc.3064G>A Putative BenignSIFT:
Polyphen: