Paralogue Annotation for CACNA1C residue 1147

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1147
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1147

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1451DBrugada syndromeMedium9 20129283

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.



CACNA1CWPELLYRSIDSHTEDKGPIYNYRVEISIFF>I<IYIIIIAFFMMNIFVGFVIVTFQEQGEQE-1176
CACNA1AWPQVLKHSVDATFENQGPSPGYRMEMSIFY>V<VYFVVFPFFFVNIFVALIIITFQEQGDKM-1521
CACNA1BWPMVLKHSVDATYEEQGPSPGYRMELSIFY>V<VYFVVFPFFFVNIFVALIIITFQEQGDKV-1427
CACNA1DWPALLYKAIDSNGENIGPIYNHRVEISIFF>I<IYIIIVAFFMMNIFVGFVIVTFQEQGEKE-1182
CACNA1EWPQVLQHSVDVTEEDRGPSRSNRMEMSIFY>V<VYFVVFPFFFVNIFVALIIITFQEQGDKM-1433
CACNA1FWPALLYKAIDAYAEDHGPIYNYRVEISVFF>I<VYIIIIAFFMMNIFVGFVIITFRAQGEQE-1147
CACNA1GWVDIMYDGLDAVGVDQQPIMNHNPWMLLYF>I<SFLLIVAFFVLNMFVGVVVENFHKCRQHQE1548
CACNA1HWVNIMYDGLDAVGVDQQPVQNHNPWMLLYF>I<SFLLIVSFFVLNMFVGVVVENFHKCRQHQE1566
CACNA1IWVNIMYNGLDAVAVDQQPVTNHNPWMLLYF>I<SFLLIVSFFVLNMFVGVVVENFHKCRQHQE1442
CACNA1SWPQLLYKAIDSNAEDVGPIYNNRVEMAIFF>I<IYIILIAFFMMNIFVGFVIVTFQEQGETE-1075
SCN10AWMDIMYAAVDSREVNMQPKWEDNVYMYLYF>V<IFIIFGGFFTLNLFVGVIIDNFNQQKKKLG1429
SCN11AWMDIIYAAVDSTEKEQQPEFESNSLGYIYF>V<VFIIFGSFFTLNLFIGVIIDNFNQQQKKLG1319
SCN1AWMDIMYAAVDSRNVELQPKYEESLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1494
SCN2AWMDIMYAAVDSRNVELQPKYEDNLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1484
SCN3AWMDIMYAAVDSRDVKLQPVYEENLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1479
SCN4AWMDIMYAAVDSREKEEQPQYEVNLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKLG1306
SCN5AWMDIMYAAVDSRGYEEQPQWEYNLYMYIYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKLG1481
SCN7AWITIMNSAIDSVAVNIQPHFEVNIYMYCYF>I<NFIIFGVFLPLSMLITVIIDNFNKHKIKLG1204
SCN8AWMDIMYAAVDSRKPDEQPKYEDNIYMYIYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1475
SCN9AWTIIMYAAVDSVNVDKQPKYEYSLYMYIYF>V<VFIIFGSFFTLNLFIGVIIDNFNQQKKKLG1457
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1147 for CACNA1C.