Paralogue Annotation for CACNA1C residue 1187

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1187
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1187

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SR1086HMalignant hyperthermiaMedium3 9199552
CACNA1SR1086SMalignant hyperthermiaMedium3 20431982, 26332594
CACNA1SR1086CHypokalaemic periodic paralysisMedium3 10590402, 25637381
SCN5AY1495SLong QT syndromeMedium3 19716085

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.



CACNA1CFVGFVIVTFQEQGEQE----YKNCELDKNQ>R<------QCV---EYAL------KARP----1198
CACNA1AFVALIIITFQEQGDKM----MEEYSLEKNE>R<------ACI---DFAI------SAKP----1543
CACNA1BFVALIIITFQEQGDKV----MSECSLEKNE>R<------ACI---DFAI------SAKP----1449
CACNA1DFVGFVIVTFQEQGEKE----YKNCELDKNQ>R<------QCV---EYAL------KARP----1204
CACNA1EFVALIIITFQEQGDKM----MEECSLEKNE>R<------ACI---DFAI------SAKP----1455
CACNA1FFVGFVIITFRAQGEQE----YQNCELDKNQ>R<------QCV---EYAL------KAQP----1169
CACNA1GFVGVVVENFHKCRQHQEEEEARRREEKRLR>R<LEKKRRNLML--DDVI-----ASGSSASAA1585
CACNA1HFVGVVVENFHKCRQHQEAEEARRREEK--->-<------RLRRLERRRRSTFPSPEAQ-----1595
CACNA1IFVGVVVENFHKCRQHQEAEEARRREEK--->-<------RLRRLEKKRR------KAQ-----1465
CACNA1SFVGFVIVTFQEQGETE----YKNCELDKNQ>R<------QCV---QYAL------KARP----1097
SCN10AFVGVIIDNFNQQKKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1454
SCN11AFIGVIIDNFNQQQKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1344
SCN1AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1519
SCN2AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1509
SCN3AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1504
SCN4AFIGVIIDNFNQQKKKLGGKDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1331
SCN5AFIGVIIDNFNQQKKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1506
SCN7ALITVIIDNFNKHKIKLGGSNIFITVKQRKQ>Y<------RRL---KK-L----M-YEDS----1229
SCN8AFIGVIIDNFNQQKKKFGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1500
SCN9AFIGVIIDNFNQQKKKLGGQDIFMTEEQKKY>Y<------NAM---KK-L----G-SKKP----1482
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1187Qc.3560G>A Putative Benignrs368861681SIFT: deleterious
Polyphen: probably damaging