Paralogue Annotation for CACNA1C residue 840

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 840
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 840

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1Fp.A806VMRXMedium4

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-----TKINMDDLQPNENEDK----SPYPN>P<---ET-----TGEEDEEEP-----------851
CACNA1A------------------------------>-<------------------------RHGAPA1012
CACNA1B------------------------------>-<------------------------RARHKA986
CACNA1D-----NKVTIDDYRE-EDEDK----DPYPP>C<---DVPVGEEEEEEEEDEP-----------857
CACNA1E----LAG-GLD------------------->E<ADTPL-----VLPHPELEVGKHVVLTEQEP1026
CACNA1F-----EK-------E-EEE-G----ARREG>A<---DMEEEEEEEEEEEEEE-----------822
CACNA1GASEHQDCNGKS---ASGRLARALRPDD--->P<---PL-----DGDDADDEG-----------1228
CACNA1HPTKCRDRDGQV---VALPSDFFLRIDS--->H<---RE-----DAAELDDDS-----------1246
CACNA1IAPGHEDCNGRM---PSIAKDVFTKMGD--->-<---RG-----DRGEDEEEI-----------1122
CACNA1S-----AKLKIDEFESNVNEVK----DPYPS>A<---DF-----PGDDEEDEP-----------750
SCN10AGTGTSSEDLAP---SLG------------->-<---E-----TWKDESVPQV-----------1073
SCN11A------------------------------>-<---------NAQRITQPEP-----------942
SCN1A------------------------------>-<---------DFSSESDLEE-----------1140
SCN2A------------------------------>-<---------EFSSESDMEE-----------1130
SCN3A------------------------------>-<---------EFSSESELEE-----------1128
SCN4A------------------------------>-<---------ETDTFSEPED-----------949
SCN5A------------------------------>-<---------EENSLGTEEE-----------1072
SCN7A------------------------------>-<---------EIQSKSGDGG-----------861
SCN8A------------------------------>-<---------DVSSESDPEG-----------1121
SCN9A------------------------------>-<---------ELSSDSDSEY-----------1103
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 840 for CACNA1C.