Paralogue Annotation for CACNA1C residue 823

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 823
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 823

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4Ap.S906Tparamyotonia congenitaLow2

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-----------TKIN>M<DDLQPNENEDK----SPYPNP---ET----842
CACNA1ARRRRH------------------------->-<------------------------------1006
CACNA1BPARRH------------------------->-<------------------------------980
CACNA1D--------------------------NKVT>I<DDYRE-EDEDK----DPYPPC---DVPVGE847
CACNA1EDLRRTNSLMVSRGSG----------LAG-G>L<D-------------------EADTPL----1006
CACNA1F--------------------------EK-->-<----E-EEE-G----ARREGA---DMEEEE812
CACNA1GLPDTLQVPGLHRTASGR--GSASEHQDCNG>K<S---ASGRLARALRPDD---P---PL----1219
CACNA1HS--------LDPRPLRPAALPPTKCRDRDG>Q<V---VALPSDFFLRIDS---H---RE----1237
CACNA1ILAELVPAVGAHPRAAWRAAGPAPGHEDCNG>R<M---PSIAKDVFTKMGD-------RG----1113
CACNA1S----------GIPTT-----------AKLK>I<DEFESNVNEVK----DPYPSA---DF----741
SCN10A------R----CGDHLTPRSPGTGTSSEDL>A<P---SLG-----------------E-----1063
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------><------------------------------
SCN5A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Met823Valc.2467A>G UnknownSIFT:
Polyphen: