Paralogue Annotation for CACNA1C residue 819

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 819
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 819

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1GA1089SMyoclonic epilepsy, juvenileLow1 17397049

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--------------ESPPA----------->T<KINMDDLQPNENEDK----SPYPNP---ET842
CACNA1A----RRRRH--------------------->-<------------------------------1006
CACNA1B----PARRH--------------------->-<------------------------------980
CACNA1D------------------------------>N<KVTIDDYRE-EDEDK----DPYPPC---DV843
CACNA1E----DLRRTNSLMVSRGSG----------L>A<G-GLD-------------------EADTPL1006
CACNA1F------------------------------>E<K-------E-EEE-G----ARREGA---DM808
CACNA1GSSFDLPDTLQVPGLHRTASGR--GSASEHQ>D<CNGKS---ASGRLARALRPDD---P---PL1219
CACNA1H--AES--------LDPRPLRPAALPPTKCR>D<RDGQV---VALPSDFFLRIDS---H---RE1237
CACNA1IDSVDLAELVPAVGAHPRAAWRAAGPAPGHE>D<CNGRM---PSIAKDVFTKMGD-------RG1113
CACNA1S--------------GIPTT----------->A<KLKIDEFESNVNEVK----DPYPSA---DF741
SCN10A----------R----CGDHLTPRSPGTGTS>S<EDLAP---SLG-----------------E-1063
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 819 for CACNA1C.