Paralogue Annotation for CACNA1C residue 1154

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1154
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1154

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS1458YLong QT syndromeMedium9 15840476
SCN10AG1406DBrugada syndromeMedium9 24998131
SCN1AS1471FDravet syndromeMedium9 26096185

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.



CACNA1CSIDSHTEDKGPIYNYRVEISIFFIIYIIII>A<FFMMNIFVGFVIVTFQEQGEQE----YKNC1180
CACNA1ASVDATFENQGPSPGYRMEMSIFYVVYFVVF>P<FFFVNIFVALIIITFQEQGDKM----MEEY1525
CACNA1BSVDATYEEQGPSPGYRMELSIFYVVYFVVF>P<FFFVNIFVALIIITFQEQGDKV----MSEC1431
CACNA1DAIDSNGENIGPIYNHRVEISIFFIIYIIIV>A<FFMMNIFVGFVIVTFQEQGEKE----YKNC1186
CACNA1ESVDVTEEDRGPSRSNRMEMSIFYVVYFVVF>P<FFFVNIFVALIIITFQEQGDKM----MEEC1437
CACNA1FAIDAYAEDHGPIYNYRVEISVFFIVYIIII>A<FFMMNIFVGFVIITFRAQGEQE----YQNC1151
CACNA1GGLDAVGVDQQPIMNHNPWMLLYFISFLLIV>A<FFVLNMFVGVVVENFHKCRQHQEEEEARRR1555
CACNA1HGLDAVGVDQQPVQNHNPWMLLYFISFLLIV>S<FFVLNMFVGVVVENFHKCRQHQEAEEARRR1573
CACNA1IGLDAVAVDQQPVTNHNPWMLLYFISFLLIV>S<FFVLNMFVGVVVENFHKCRQHQEAEEARRR1449
CACNA1SAIDSNAEDVGPIYNNRVEMAIFFIIYIILI>A<FFMMNIFVGFVIVTFQEQGETE----YKNC1079
SCN10AAVDSREVNMQPKWEDNVYMYLYFVIFIIFG>G<FFTLNLFVGVIIDNFNQQKKKLGGQDIFMT1436
SCN11AAVDSTEKEQQPEFESNSLGYIYFVVFIIFG>S<FFTLNLFIGVIIDNFNQQQKKLGGQDIFMT1326
SCN1AAVDSRNVELQPKYEESLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1501
SCN2AAVDSRNVELQPKYEDNLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1491
SCN3AAVDSRDVKLQPVYEENLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1486
SCN4AAVDSREKEEQPQYEVNLYMYLYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKLGGKDIFMT1313
SCN5AAVDSRGYEEQPQWEYNLYMYIYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKLGGQDIFMT1488
SCN7AAIDSVAVNIQPHFEVNIYMYCYFINFIIFG>V<FLPLSMLITVIIDNFNKHKIKLGGSNIFIT1211
SCN8AAVDSRKPDEQPKYEDNIYMYIYFVIFIIFG>S<FFTLNLFIGVIIDNFNQQKKKFGGQDIFMT1482
SCN9AAVDSVNVDKQPKYEYSLYMYIYFVVFIIFG>S<FFTLNLFIGVIIDNFNQQKKKLGGQDIFMT1464
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala1154Valc.3461C>T UnknownSIFT:
Polyphen: