Paralogue Annotation for CACNA1C residue 1158

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1158
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1158

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1475SMyoclonic epilepsy of infancyMedium9 17054684

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.



CACNA1CHTEDKGPIYNYRVEISIFFIIYIIIIAFFM>M<NIFVGFVIVTFQEQGEQE----YKNCELDK1184
CACNA1ATFENQGPSPGYRMEMSIFYVVYFVVFPFFF>V<NIFVALIIITFQEQGDKM----MEEYSLEK1529
CACNA1BTYEEQGPSPGYRMELSIFYVVYFVVFPFFF>V<NIFVALIIITFQEQGDKV----MSECSLEK1435
CACNA1DNGENIGPIYNHRVEISIFFIIYIIIVAFFM>M<NIFVGFVIVTFQEQGEKE----YKNCELDK1190
CACNA1ETEEDRGPSRSNRMEMSIFYVVYFVVFPFFF>V<NIFVALIIITFQEQGDKM----MEECSLEK1441
CACNA1FYAEDHGPIYNYRVEISVFFIVYIIIIAFFM>M<NIFVGFVIITFRAQGEQE----YQNCELDK1155
CACNA1GVGVDQQPIMNHNPWMLLYFISFLLIVAFFV>L<NMFVGVVVENFHKCRQHQEEEEARRREEKR1559
CACNA1HVGVDQQPVQNHNPWMLLYFISFLLIVSFFV>L<NMFVGVVVENFHKCRQHQEAEEARRREEK-1576
CACNA1IVAVDQQPVTNHNPWMLLYFISFLLIVSFFV>L<NMFVGVVVENFHKCRQHQEAEEARRREEK-1452
CACNA1SNAEDVGPIYNNRVEMAIFFIIYIILIAFFM>M<NIFVGFVIVTFQEQGETE----YKNCELDK1083
SCN10AREVNMQPKWEDNVYMYLYFVIFIIFGGFFT>L<NLFVGVIIDNFNQQKKKLGGQDIFMTEEQK1440
SCN11ATEKEQQPEFESNSLGYIYFVVFIIFGSFFT>L<NLFIGVIIDNFNQQQKKLGGQDIFMTEEQK1330
SCN1ARNVELQPKYEESLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1505
SCN2ARNVELQPKYEDNLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1495
SCN3ARDVKLQPVYEENLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1490
SCN4AREKEEQPQYEVNLYMYLYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKLGGKDIFMTEEQK1317
SCN5ARGYEEQPQWEYNLYMYIYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKLGGQDIFMTEEQK1492
SCN7AVAVNIQPHFEVNIYMYCYFINFIIFGVFLP>L<SMLITVIIDNFNKHKIKLGGSNIFITVKQR1215
SCN8ARKPDEQPKYEDNIYMYIYFVIFIIFGSFFT>L<NLFIGVIIDNFNQQKKKFGGQDIFMTEEQK1486
SCN9AVNVDKQPKYEYSLYMYIYFVVFIIFGSFFT>L<NLFIGVIIDNFNQQKKKLGGQDIFMTEEQK1468
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1158 for CACNA1C.