Paralogue Annotation for CACNA1C residue 1161

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1161
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1161

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AF1507SHemiplegic migraineHigh9 20837964

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.



CACNA1CDKGPIYNYRVEISIFFIIYIIIIAFFMMNI>F<VGFVIVTFQEQGEQE----YKNCELDKNQR1187
CACNA1ANQGPSPGYRMEMSIFYVVYFVVFPFFFVNI>F<VALIIITFQEQGDKM----MEEYSLEKNER1532
CACNA1BEQGPSPGYRMELSIFYVVYFVVFPFFFVNI>F<VALIIITFQEQGDKV----MSECSLEKNER1438
CACNA1DNIGPIYNHRVEISIFFIIYIIIVAFFMMNI>F<VGFVIVTFQEQGEKE----YKNCELDKNQR1193
CACNA1EDRGPSRSNRMEMSIFYVVYFVVFPFFFVNI>F<VALIIITFQEQGDKM----MEECSLEKNER1444
CACNA1FDHGPIYNYRVEISVFFIVYIIIIAFFMMNI>F<VGFVIITFRAQGEQE----YQNCELDKNQR1158
CACNA1GDQQPIMNHNPWMLLYFISFLLIVAFFVLNM>F<VGVVVENFHKCRQHQEEEEARRREEKRLRR1562
CACNA1HDQQPVQNHNPWMLLYFISFLLIVSFFVLNM>F<VGVVVENFHKCRQHQEAEEARRREEK----1576
CACNA1IDQQPVTNHNPWMLLYFISFLLIVSFFVLNM>F<VGVVVENFHKCRQHQEAEEARRREEK----1452
CACNA1SDVGPIYNNRVEMAIFFIIYIILIAFFMMNI>F<VGFVIVTFQEQGETE----YKNCELDKNQR1086
SCN10ANMQPKWEDNVYMYLYFVIFIIFGGFFTLNL>F<VGVIIDNFNQQKKKLGGQDIFMTEEQKKYY1443
SCN11AEQQPEFESNSLGYIYFVVFIIFGSFFTLNL>F<IGVIIDNFNQQQKKLGGQDIFMTEEQKKYY1333
SCN1AELQPKYEESLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1508
SCN2AELQPKYEDNLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1498
SCN3AKLQPVYEENLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1493
SCN4AEEQPQYEVNLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKLGGKDIFMTEEQKKYY1320
SCN5AEEQPQWEYNLYMYIYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKLGGQDIFMTEEQKKYY1495
SCN7ANIQPHFEVNIYMYCYFINFIIFGVFLPLSM>L<ITVIIDNFNKHKIKLGGSNIFITVKQRKQY1218
SCN8ADEQPKYEDNIYMYIYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1489
SCN9ADKQPKYEYSLYMYIYFVVFIIFGSFFTLNL>F<IGVIIDNFNQQKKKLGGQDIFMTEEQKKYY1471
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1161 for CACNA1C.