Paralogue Annotation for CACNA1C residue 1159

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1159
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1159

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AN1463YBrugada syndromeHigh9 20129283, 24136861
SCN1AN1476KDravet syndrome B ?High9 21248271

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.



CACNA1CTEDKGPIYNYRVEISIFFIIYIIIIAFFMM>N<IFVGFVIVTFQEQGEQE----YKNCELDKN1185
CACNA1AFENQGPSPGYRMEMSIFYVVYFVVFPFFFV>N<IFVALIIITFQEQGDKM----MEEYSLEKN1530
CACNA1BYEEQGPSPGYRMELSIFYVVYFVVFPFFFV>N<IFVALIIITFQEQGDKV----MSECSLEKN1436
CACNA1DGENIGPIYNHRVEISIFFIIYIIIVAFFMM>N<IFVGFVIVTFQEQGEKE----YKNCELDKN1191
CACNA1EEEDRGPSRSNRMEMSIFYVVYFVVFPFFFV>N<IFVALIIITFQEQGDKM----MEECSLEKN1442
CACNA1FAEDHGPIYNYRVEISVFFIVYIIIIAFFMM>N<IFVGFVIITFRAQGEQE----YQNCELDKN1156
CACNA1GGVDQQPIMNHNPWMLLYFISFLLIVAFFVL>N<MFVGVVVENFHKCRQHQEEEEARRREEKRL1560
CACNA1HGVDQQPVQNHNPWMLLYFISFLLIVSFFVL>N<MFVGVVVENFHKCRQHQEAEEARRREEK--1576
CACNA1IAVDQQPVTNHNPWMLLYFISFLLIVSFFVL>N<MFVGVVVENFHKCRQHQEAEEARRREEK--1452
CACNA1SAEDVGPIYNNRVEMAIFFIIYIILIAFFMM>N<IFVGFVIVTFQEQGETE----YKNCELDKN1084
SCN10AEVNMQPKWEDNVYMYLYFVIFIIFGGFFTL>N<LFVGVIIDNFNQQKKKLGGQDIFMTEEQKK1441
SCN11AEKEQQPEFESNSLGYIYFVVFIIFGSFFTL>N<LFIGVIIDNFNQQQKKLGGQDIFMTEEQKK1331
SCN1ANVELQPKYEESLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1506
SCN2ANVELQPKYEDNLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1496
SCN3ADVKLQPVYEENLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1491
SCN4AEKEEQPQYEVNLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKLGGKDIFMTEEQKK1318
SCN5AGYEEQPQWEYNLYMYIYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK1493
SCN7AAVNIQPHFEVNIYMYCYFINFIIFGVFLPL>S<MLITVIIDNFNKHKIKLGGSNIFITVKQRK1216
SCN8AKPDEQPKYEDNIYMYIYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1487
SCN9ANVDKQPKYEYSLYMYIYFVVFIIFGSFFTL>N<LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK1469
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1159 for CACNA1C.