Paralogue Annotation for CACNA1C residue 708

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 708
Reference Amino Acid: W - Tryptophan
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 708

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW952GMyoclonic epilepsy of infancyHigh9 18554359, 24168886
SCN1AW952RDravet syndromeHigh9 21868258
SCN1AW952XMyoclonic epilepsy of infancyHigh9 12566275, 23195492, 25525159
SCN1AW952XDravet syndrome BHigh9 21248271, 25525159

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.



CACNA1C----MQTRRSTFDNFPQSLLTVFQILTGED>W<NSVMYDGIMAYGGPSFPGMLVCIYFIILFI738
CACNA1A----G-TPPTNFDTFPAAIMTVFQILTGED>W<NEVMYDGIKSQGGV-QGGMVFSIYFIVLTL699
CACNA1B----E-TPTTNFDTFPAAILTVFQILTGED>W<NAVMYHGIESQGGV-SKGMFSSFYFIVLTL695
CACNA1D----TQTKRSTFDNFPQALLTVFQILTGED>W<NAVMYDGIMAYGGPSSSGMIVCIYFIILFI757
CACNA1E----G-TPSANFDTFPAAIMTVFQILTGED>W<NEVMYNGIRSQGGV-SSGMWSAIYFIVLTL688
CACNA1F----THTKRSTFDTFPQALLTVFQILTGED>W<NVVMYDGIMAYGGPFFPGMLVCIYFIILFI743
CACNA1GDG-DTLPDRKNFDSLLWAIVTVFQILTQED>W<NKVLYNGMAS-T-S----SWAALYFIALMT949
CACNA1HTG-DTVPDRKNFDSLLWAIVTVFQILTQED>W<NVVLYNGMAS-T-S----SWAALYFVALMT1000
CACNA1ITG-DTVPDRKNFDSLLWAIVTVFQILTQED>W<NVVLYNGMAS-T-S----PWASLYFVALMT847
CACNA1S----TEVRRSNFDNFPQALISVFQVLTGED>W<TSMMYNGIMAYGGPSYPGMLVCIYFIILFV646
SCN10ASAPHEDWPRWHMHDFFHSFLIVFRILCGE->W<IENMWACMEV-----GQKSICLILFLTVMV875
SCN11AGPTVSCLRHWHMGDFWHSFLVVFRILCGE->W<IENMWECMQEAN---ASSSLCVIVFILITV796
SCN1AAS-DCQLPRWHMNDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQAMCLTVFMMVMV977
SCN2ASN-DCELPRWHMHDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQTMCLTVFMMVMV968
SCN3AND-DCTLPRWHMNDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQTMCLIVFMLVMV969
SCN4AAL-DCNLPRWHMHDFFHSFLIVFRILCGE->W<IETMWDCMEV-----AGQAMCLTVFLMVMV787
SCN5ASG---LLPRWHMMDFFHAFLIIFRILCGE->W<IETMWDCMEV-----SGQSLCLLVFLLVMV924
SCN7ADK-DCQLPRWHMHDFFHSFLNVFRILCGE->W<VETLWDCMEV-----AGQSWCIPFYLMVIL714
SCN8ANQ-DCELPRWHMHDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQAMCLIVFMMVMV962
SCN9AND-DCTLPRWHMNDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQAMCLIVYMMVMV942
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 708 for CACNA1C.