Paralogue Annotation for CACNA1C residue 1181

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1181
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1181

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1489DLong QT syndromeHigh5 19716085
SCN8AE1483KInfantile seizures, benign and paroxysmal dyskinesHigh5 26677014

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.



CACNA1CFFMMNIFVGFVIVTFQEQGEQE----YKNC>E<LDKNQR------QCV---EYAL------KA1196
CACNA1AFFFVNIFVALIIITFQEQGDKM----MEEY>S<LEKNER------ACI---DFAI------SA1541
CACNA1BFFFVNIFVALIIITFQEQGDKV----MSEC>S<LEKNER------ACI---DFAI------SA1447
CACNA1DFFMMNIFVGFVIVTFQEQGEKE----YKNC>E<LDKNQR------QCV---EYAL------KA1202
CACNA1EFFFVNIFVALIIITFQEQGDKM----MEEC>S<LEKNER------ACI---DFAI------SA1453
CACNA1FFFMMNIFVGFVIITFRAQGEQE----YQNC>E<LDKNQR------QCV---EYAL------KA1167
CACNA1GFFVLNMFVGVVVENFHKCRQHQEEEEARRR>E<EKRLRRLEKKRRNLML--DDVI-----ASG1579
CACNA1HFFVLNMFVGVVVENFHKCRQHQEAEEARRR>E<EK----------RLRRLERRRRSTFPSPEA1594
CACNA1IFFVLNMFVGVVVENFHKCRQHQEAEEARRR>E<EK----------RLRRLEKKRR------KA1464
CACNA1SFFMMNIFVGFVIVTFQEQGETE----YKNC>E<LDKNQR------QCV---QYAL------KA1095
SCN10AFFTLNLFVGVIIDNFNQQKKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1452
SCN11AFFTLNLFIGVIIDNFNQQQKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1342
SCN1AFFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1517
SCN2AFFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1507
SCN3AFFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1502
SCN4AFFTLNLFIGVIIDNFNQQKKKLGGKDIFMT>E<EQKKYY------NAM---KK-L----G-SK1329
SCN5AFFTLNLFIGVIIDNFNQQKKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1504
SCN7AFLPLSMLITVIIDNFNKHKIKLGGSNIFIT>V<KQRKQY------RRL---KK-L----M-YE1227
SCN8AFFTLNLFIGVIIDNFNQQKKKFGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1498
SCN9AFFTLNLFIGVIIDNFNQQKKKLGGQDIFMT>E<EQKKYY------NAM---KK-L----G-SK1480
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1181 for CACNA1C.