Paralogue Annotation for CACNA1C residue 1185

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1185
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1185

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AK1493RAtrial fibrillationLow3 19167345, 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.



CACNA1CNIFVGFVIVTFQEQGEQE----YKNCELDK>N<QR------QCV---EYAL------KARP--1198
CACNA1ANIFVALIIITFQEQGDKM----MEEYSLEK>N<ER------ACI---DFAI------SAKP--1543
CACNA1BNIFVALIIITFQEQGDKV----MSECSLEK>N<ER------ACI---DFAI------SAKP--1449
CACNA1DNIFVGFVIVTFQEQGEKE----YKNCELDK>N<QR------QCV---EYAL------KARP--1204
CACNA1ENIFVALIIITFQEQGDKM----MEECSLEK>N<ER------ACI---DFAI------SAKP--1455
CACNA1FNIFVGFVIITFRAQGEQE----YQNCELDK>N<QR------QCV---EYAL------KAQP--1169
CACNA1GNMFVGVVVENFHKCRQHQEEEEARRREEKR>L<RRLEKKRRNLML--DDVI-----ASGSSAS1583
CACNA1HNMFVGVVVENFHKCRQHQEAEEARRREEK->-<--------RLRRLERRRRSTFPSPEAQ---1595
CACNA1INMFVGVVVENFHKCRQHQEAEEARRREEK->-<--------RLRRLEKKRR------KAQ---1465
CACNA1SNIFVGFVIVTFQEQGETE----YKNCELDK>N<QR------QCV---QYAL------KARP--1097
SCN10ANLFVGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1454
SCN11ANLFIGVIIDNFNQQQKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1344
SCN1ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1519
SCN2ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1509
SCN3ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1504
SCN4ANLFIGVIIDNFNQQKKKLGGKDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1331
SCN5ANLFIGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1506
SCN7ASMLITVIIDNFNKHKIKLGGSNIFITVKQR>K<QY------RRL---KK-L----M-YEDS--1229
SCN8ANLFIGVIIDNFNQQKKKFGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1500
SCN9ANLFIGVIIDNFNQQKKKLGGQDIFMTEEQK>K<YY------NAM---KK-L----G-SKKP--1482
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1185 for CACNA1C.