Paralogue Annotation for CACNA1C residue 1178

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1178
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1178

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF1486LSudden adult death syndromeMedium6 17210839, 17210841, 20038812
SCN1AF1499LHemiplegic migraine 2Medium6 19332696
SCN9AF1462VParoxysmal extreme pain disorderMedium6 17145499

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.



CACNA1CIIAFFMMNIFVGFVIVTFQEQGEQE----Y>K<NCELDKNQR------QCV---EYAL-----1194
CACNA1AVFPFFFVNIFVALIIITFQEQGDKM----M>E<EYSLEKNER------ACI---DFAI-----1539
CACNA1BVFPFFFVNIFVALIIITFQEQGDKV----M>S<ECSLEKNER------ACI---DFAI-----1445
CACNA1DIVAFFMMNIFVGFVIVTFQEQGEKE----Y>K<NCELDKNQR------QCV---EYAL-----1200
CACNA1EVFPFFFVNIFVALIIITFQEQGDKM----M>E<ECSLEKNER------ACI---DFAI-----1451
CACNA1FIIAFFMMNIFVGFVIITFRAQGEQE----Y>Q<NCELDKNQR------QCV---EYAL-----1165
CACNA1GIVAFFVLNMFVGVVVENFHKCRQHQEEEEA>R<RREEKRLRRLEKKRRNLML--DDVI-----1576
CACNA1HIVSFFVLNMFVGVVVENFHKCRQHQEAEEA>R<RREEK----------RLRRLERRRRSTFPS1591
CACNA1IIVSFFVLNMFVGVVVENFHKCRQHQEAEEA>R<RREEK----------RLRRLEKKRR-----1462
CACNA1SLIAFFMMNIFVGFVIVTFQEQGETE----Y>K<NCELDKNQR------QCV---QYAL-----1093
SCN10AFGGFFTLNLFVGVIIDNFNQQKKKLGGQDI>F<MTEEQKKYY------NAM---KK-L----G1450
SCN11AFGSFFTLNLFIGVIIDNFNQQQKKLGGQDI>F<MTEEQKKYY------NAM---KK-L----G1340
SCN1AFGSFFTLNLFIGVIIDNFNQQKKKFGGQDI>F<MTEEQKKYY------NAM---KK-L----G1515
SCN2AFGSFFTLNLFIGVIIDNFNQQKKKFGGQDI>F<MTEEQKKYY------NAM---KK-L----G1505
SCN3AFGSFFTLNLFIGVIIDNFNQQKKKFGGQDI>F<MTEEQKKYY------NAM---KK-L----G1500
SCN4AFGSFFTLNLFIGVIIDNFNQQKKKLGGKDI>F<MTEEQKKYY------NAM---KK-L----G1327
SCN5AFGSFFTLNLFIGVIIDNFNQQKKKLGGQDI>F<MTEEQKKYY------NAM---KK-L----G1502
SCN7AFGVFLPLSMLITVIIDNFNKHKIKLGGSNI>F<ITVKQRKQY------RRL---KK-L----M1225
SCN8AFGSFFTLNLFIGVIIDNFNQQKKKFGGQDI>F<MTEEQKKYY------NAM---KK-L----G1496
SCN9AFGSFFTLNLFIGVIIDNFNQQKKKLGGQDI>F<MTEEQKKYY------NAM---KK-L----G1478
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1178 for CACNA1C.