Paralogue Annotation for CACNA1C residue 991

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 991
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 991

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1309FGeneralized epilepsy with febrile seizures plusMedium9 20117752

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.



CACNA1CFNILDLLVVSVSLISF----G----IQSSA>I<NVVKILRVLRVLRPLRAINRAKGLKHVVQC1021
CACNA1AWNILDFIVVSGALVAFAFTGN----SKGKD>I<NTIKSLRVLRVLRPLKTIKRLPKLKAVFDC1369
CACNA1BWNILDFIVVSGALVAFAFS-G----SKGKD>I<NTIKSLRVLRVLRPLKTIKRLPKLKAVFDC1275
CACNA1DFNLLDMLVVGVSLVSF----G----IQSSA>I<SVVKILRVLRVLRPLRAINRAKGLKHVVQC1027
CACNA1EWNILDFVVVVGALVAFALANA-LGTNKGRD>I<KTIKSLRVLRVLRPLKTIKRLPKLKAVFDC1281
CACNA1FFNMLDLLVVSVSLISF----G----IHSSA>I<SVVKILRVLRVLRPLRAINRAKGLKHVVQC992
CACNA1GWNVLDGLLVLISVIDILVS-MVSD-SGTKI>L<GMLRVLRLLRTLRPLRVISRAQGLKLVVET1404
CACNA1HWNLLDGLLVLVSLVDIVVA-MASA-GGAKI>L<GVLRVLRLLRTLRPLRVISRAPGLKLVVET1422
CACNA1IWNVLDGFLVFVSIIDIVVS-LASA-GGAKI>L<GVLRVLRLLRTLRPLRVISRAPGLKLVVET1298
CACNA1SFNMLDLLVVAVSLISM----G----LESSA>I<SVVKILRVLRVLRPLRAINRAKGLKHVVQC920
SCN10AWCWLDFLIVNISLISLTAK-I----LEYSE>V<APIKALRTLRALRPLRALSRFEGMRVVVDA1273
SCN11AWCCLDFIIVIVSVTTLI---------N--->L<MELKSFRTLRALRPLRALSQFEGMKVVVNA1170
SCN1AWCWLDFLIVDVSLVSLTAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA1339
SCN2AWCWLDFLIVDVSLVSLTAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA1329
SCN3AWCWLDFLIVDVSLVSLVAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA1327
SCN4AWCWLDFLIVDVSIISLVAN-W----LGYSE>L<GPIKSLRTLRALRPLRALSRFEGMRVVVNA1152
SCN5AWCWLDFLIVDVSLVSLVAN-T----LGFAE>M<GPIKSLRTLRALRPLRALSRFEGMRVVVNA1326
SCN7AWYRLDFVVVIVFCLSLIGK-T----RE--E>-<--LKPLISMKFLRPLRVLSQFERMKVVVRA1050
SCN8AWCWLDFLIVAVSLVSLIAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA1319
SCN9AWCWLDFLIVDVSLVTLVAN-T----LGYSD>L<GPIKSLRTLRALRPLRALSRFEGMRVVVNA1302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 991 for CACNA1C.