Paralogue Annotation for CACNA1C residue 1146

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1146
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1146

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1463SMyoclonic epilepsy of infancyHigh9 12821740
SCN1AF1463LDravet syndromeHigh9 21844054

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.



CACNA1CGWPELLYRSIDSHTEDKGPIYNYRVEISIF>F<IIYIIIIAFFMMNIFVGFVIVTFQEQGEQE1176
CACNA1AGWPQVLKHSVDATFENQGPSPGYRMEMSIF>Y<VVYFVVFPFFFVNIFVALIIITFQEQGDKM1521
CACNA1BGWPMVLKHSVDATYEEQGPSPGYRMELSIF>Y<VVYFVVFPFFFVNIFVALIIITFQEQGDKV1427
CACNA1DGWPALLYKAIDSNGENIGPIYNHRVEISIF>F<IIYIIIVAFFMMNIFVGFVIVTFQEQGEKE1182
CACNA1EGWPQVLQHSVDVTEEDRGPSRSNRMEMSIF>Y<VVYFVVFPFFFVNIFVALIIITFQEQGDKM1433
CACNA1FGWPALLYKAIDAYAEDHGPIYNYRVEISVF>F<IVYIIIIAFFMMNIFVGFVIITFRAQGEQE1147
CACNA1GGWVDIMYDGLDAVGVDQQPIMNHNPWMLLY>F<ISFLLIVAFFVLNMFVGVVVENFHKCRQHQ1547
CACNA1HGWVNIMYDGLDAVGVDQQPVQNHNPWMLLY>F<ISFLLIVSFFVLNMFVGVVVENFHKCRQHQ1565
CACNA1IGWVNIMYNGLDAVAVDQQPVTNHNPWMLLY>F<ISFLLIVSFFVLNMFVGVVVENFHKCRQHQ1441
CACNA1SGWPQLLYKAIDSNAEDVGPIYNNRVEMAIF>F<IIYIILIAFFMMNIFVGFVIVTFQEQGETE1075
SCN10AGWMDIMYAAVDSREVNMQPKWEDNVYMYLY>F<VIFIIFGGFFTLNLFVGVIIDNFNQQKKKL1428
SCN11AGWMDIIYAAVDSTEKEQQPEFESNSLGYIY>F<VVFIIFGSFFTLNLFIGVIIDNFNQQQKKL1318
SCN1AGWMDIMYAAVDSRNVELQPKYEESLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1493
SCN2AGWMDIMYAAVDSRNVELQPKYEDNLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1483
SCN3AGWMDIMYAAVDSRDVKLQPVYEENLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1478
SCN4AGWMDIMYAAVDSREKEEQPQYEVNLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKL1305
SCN5AGWMDIMYAAVDSRGYEEQPQWEYNLYMYIY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKL1480
SCN7AGWITIMNSAIDSVAVNIQPHFEVNIYMYCY>F<INFIIFGVFLPLSMLITVIIDNFNKHKIKL1203
SCN8AGWMDIMYAAVDSRKPDEQPKYEDNIYMYIY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1474
SCN9AGWTIIMYAAVDSVNVDKQPKYEYSLYMYIY>F<VVFIIFGSFFTLNLFIGVIIDNFNQQKKKL1456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1146 for CACNA1C.