Paralogue Annotation for CACNA1C residue 1164

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1164
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1164

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1468FBrugada syndromeMedium9 20129283, 24136861
SCN4AV1293IParamyotonia congenitaMedium9 8580427, 24939454

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.



CACNA1CPIYNYRVEISIFFIIYIIIIAFFMMNIFVG>F<VIVTFQEQGEQE----YKNCELDKNQR---1187
CACNA1APSPGYRMEMSIFYVVYFVVFPFFFVNIFVA>L<IIITFQEQGDKM----MEEYSLEKNER---1532
CACNA1BPSPGYRMELSIFYVVYFVVFPFFFVNIFVA>L<IIITFQEQGDKV----MSECSLEKNER---1438
CACNA1DPIYNHRVEISIFFIIYIIIVAFFMMNIFVG>F<VIVTFQEQGEKE----YKNCELDKNQR---1193
CACNA1EPSRSNRMEMSIFYVVYFVVFPFFFVNIFVA>L<IIITFQEQGDKM----MEECSLEKNER---1444
CACNA1FPIYNYRVEISVFFIVYIIIIAFFMMNIFVG>F<VIITFRAQGEQE----YQNCELDKNQR---1158
CACNA1GPIMNHNPWMLLYFISFLLIVAFFVLNMFVG>V<VVENFHKCRQHQEEEEARRREEKRLRRLEK1565
CACNA1HPVQNHNPWMLLYFISFLLIVSFFVLNMFVG>V<VVENFHKCRQHQEAEEARRREEK-------1576
CACNA1IPVTNHNPWMLLYFISFLLIVSFFVLNMFVG>V<VVENFHKCRQHQEAEEARRREEK-------1452
CACNA1SPIYNNRVEMAIFFIIYIILIAFFMMNIFVG>F<VIVTFQEQGETE----YKNCELDKNQR---1086
SCN10APKWEDNVYMYLYFVIFIIFGGFFTLNLFVG>V<IIDNFNQQKKKLGGQDIFMTEEQKKYY---1443
SCN11APEFESNSLGYIYFVVFIIFGSFFTLNLFIG>V<IIDNFNQQQKKLGGQDIFMTEEQKKYY---1333
SCN1APKYEESLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1508
SCN2APKYEDNLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1498
SCN3APVYEENLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1493
SCN4APQYEVNLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKLGGKDIFMTEEQKKYY---1320
SCN5APQWEYNLYMYIYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKLGGQDIFMTEEQKKYY---1495
SCN7APHFEVNIYMYCYFINFIIFGVFLPLSMLIT>V<IIDNFNKHKIKLGGSNIFITVKQRKQY---1218
SCN8APKYEDNIYMYIYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1489
SCN9APKYEYSLYMYIYFVVFIIFGSFFTLNLFIG>V<IIDNFNQQKKKLGGQDIFMTEEQKKYY---1471
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1164 for CACNA1C.