Paralogue Annotation for CACNA1C residue 1148

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1148
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1148

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AV1494IEpisodic ataxia 2Medium9 15173248

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.



CACNA1CPELLYRSIDSHTEDKGPIYNYRVEISIFFI>I<YIIIIAFFMMNIFVGFVIVTFQEQGEQE--1176
CACNA1APQVLKHSVDATFENQGPSPGYRMEMSIFYV>V<YFVVFPFFFVNIFVALIIITFQEQGDKM--1521
CACNA1BPMVLKHSVDATYEEQGPSPGYRMELSIFYV>V<YFVVFPFFFVNIFVALIIITFQEQGDKV--1427
CACNA1DPALLYKAIDSNGENIGPIYNHRVEISIFFI>I<YIIIVAFFMMNIFVGFVIVTFQEQGEKE--1182
CACNA1EPQVLQHSVDVTEEDRGPSRSNRMEMSIFYV>V<YFVVFPFFFVNIFVALIIITFQEQGDKM--1433
CACNA1FPALLYKAIDAYAEDHGPIYNYRVEISVFFI>V<YIIIIAFFMMNIFVGFVIITFRAQGEQE--1147
CACNA1GVDIMYDGLDAVGVDQQPIMNHNPWMLLYFI>S<FLLIVAFFVLNMFVGVVVENFHKCRQHQEE1549
CACNA1HVNIMYDGLDAVGVDQQPVQNHNPWMLLYFI>S<FLLIVSFFVLNMFVGVVVENFHKCRQHQEA1567
CACNA1IVNIMYNGLDAVAVDQQPVTNHNPWMLLYFI>S<FLLIVSFFVLNMFVGVVVENFHKCRQHQEA1443
CACNA1SPQLLYKAIDSNAEDVGPIYNNRVEMAIFFI>I<YIILIAFFMMNIFVGFVIVTFQEQGETE--1075
SCN10AMDIMYAAVDSREVNMQPKWEDNVYMYLYFV>I<FIIFGGFFTLNLFVGVIIDNFNQQKKKLGG1430
SCN11AMDIIYAAVDSTEKEQQPEFESNSLGYIYFV>V<FIIFGSFFTLNLFIGVIIDNFNQQQKKLGG1320
SCN1AMDIMYAAVDSRNVELQPKYEESLYMYLYFV>I<FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG1495
SCN2AMDIMYAAVDSRNVELQPKYEDNLYMYLYFV>I<FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG1485
SCN3AMDIMYAAVDSRDVKLQPVYEENLYMYLYFV>I<FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG1480
SCN4AMDIMYAAVDSREKEEQPQYEVNLYMYLYFV>I<FIIFGSFFTLNLFIGVIIDNFNQQKKKLGG1307
SCN5AMDIMYAAVDSRGYEEQPQWEYNLYMYIYFV>I<FIIFGSFFTLNLFIGVIIDNFNQQKKKLGG1482
SCN7AITIMNSAIDSVAVNIQPHFEVNIYMYCYFI>N<FIIFGVFLPLSMLITVIIDNFNKHKIKLGG1205
SCN8AMDIMYAAVDSRKPDEQPKYEDNIYMYIYFV>I<FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG1476
SCN9ATIIMYAAVDSVNVDKQPKYEYSLYMYIYFV>V<FIIFGSFFTLNLFIGVIIDNFNQQKKKLGG1458
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1148 for CACNA1C.