Paralogue Annotation for CACNA1C residue 1153

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1153
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1153

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1470WMyoclonic epilepsy of infancyMedium9 17561957
SCN8AG1451SIntellectual disability and epilepsyMedium9 25725044, 25725044

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.



CACNA1CRSIDSHTEDKGPIYNYRVEISIFFIIYIII>I<AFFMMNIFVGFVIVTFQEQGEQE----YKN1179
CACNA1AHSVDATFENQGPSPGYRMEMSIFYVVYFVV>F<PFFFVNIFVALIIITFQEQGDKM----MEE1524
CACNA1BHSVDATYEEQGPSPGYRMELSIFYVVYFVV>F<PFFFVNIFVALIIITFQEQGDKV----MSE1430
CACNA1DKAIDSNGENIGPIYNHRVEISIFFIIYIII>V<AFFMMNIFVGFVIVTFQEQGEKE----YKN1185
CACNA1EHSVDVTEEDRGPSRSNRMEMSIFYVVYFVV>F<PFFFVNIFVALIIITFQEQGDKM----MEE1436
CACNA1FKAIDAYAEDHGPIYNYRVEISVFFIVYIII>I<AFFMMNIFVGFVIITFRAQGEQE----YQN1150
CACNA1GDGLDAVGVDQQPIMNHNPWMLLYFISFLLI>V<AFFVLNMFVGVVVENFHKCRQHQEEEEARR1554
CACNA1HDGLDAVGVDQQPVQNHNPWMLLYFISFLLI>V<SFFVLNMFVGVVVENFHKCRQHQEAEEARR1572
CACNA1INGLDAVAVDQQPVTNHNPWMLLYFISFLLI>V<SFFVLNMFVGVVVENFHKCRQHQEAEEARR1448
CACNA1SKAIDSNAEDVGPIYNNRVEMAIFFIIYIIL>I<AFFMMNIFVGFVIVTFQEQGETE----YKN1078
SCN10AAAVDSREVNMQPKWEDNVYMYLYFVIFIIF>G<GFFTLNLFVGVIIDNFNQQKKKLGGQDIFM1435
SCN11AAAVDSTEKEQQPEFESNSLGYIYFVVFIIF>G<SFFTLNLFIGVIIDNFNQQQKKLGGQDIFM1325
SCN1AAAVDSRNVELQPKYEESLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1500
SCN2AAAVDSRNVELQPKYEDNLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1490
SCN3AAAVDSRDVKLQPVYEENLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1485
SCN4AAAVDSREKEEQPQYEVNLYMYLYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKLGGKDIFM1312
SCN5AAAVDSRGYEEQPQWEYNLYMYIYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKLGGQDIFM1487
SCN7ASAIDSVAVNIQPHFEVNIYMYCYFINFIIF>G<VFLPLSMLITVIIDNFNKHKIKLGGSNIFI1210
SCN8AAAVDSRKPDEQPKYEDNIYMYIYFVIFIIF>G<SFFTLNLFIGVIIDNFNQQKKKFGGQDIFM1481
SCN9AAAVDSVNVDKQPKYEYSLYMYIYFVVFIIF>G<SFFTLNLFIGVIIDNFNQQKKKLGGQDIFM1463
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1153Vc.3457A>G Putative Benignrs370798052SIFT: tolerated
Polyphen: possibly damaging