Paralogue Annotation for CACNA1C residue 845

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 845
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 845

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD1055GBrugada syndromeLow2 20129283

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.



CACNA1CQPNENEDK----SPYPNP---ET-----TG>E<EDEEEP------------------------851
CACNA1A------------------------------>-<-----------RHGAPATYEGDARREDKER1025
CACNA1B------------------------------>-<-----------RARHKAQPAHEAVEKETT-998
CACNA1DRE-EDEDK----DPYPPC---DVPVGEEEE>E<EEEDEP------------------------857
CACNA1E-----------------EADTPL-----VL>P<HPELEVGKHVVLTEQEPEGSSEQALLGNVQ1039
CACNA1F-E-EEE-G----ARREGA---DMEEEEEEE>E<EEEEEE------------------------822
CACNA1G-ASGRLARALRPDD---P---PL-----DG>D<DADDEG------------------------1228
CACNA1H-VALPSDFFLRIDS---H---RE-----DA>A<ELDDDS------------------------1246
CACNA1I-PSIAKDVFTKMGD-------RG-----DR>G<EDEEEI------------------------1122
CACNA1SESNVNEVK----DPYPSA---DF-----PG>D<DEEDEP------------------------750
SCN10A-SLG-----------------E-----TWK>D<ESVPQV-------------PA---E-----1076
SCN11A---------------------------NAQ>R<ITQPEP-------------EQQAYEL----949
SCN1A---------------------------DFS>S<ESDLEE-------------SK---E-----1143
SCN2A---------------------------EFS>S<ESDMEE-------------SK---E-----1133
SCN3A---------------------------EFS>S<ESELEE-------------SK---E-----1131
SCN4A---------------------------ETD>T<FSEPED-------------SKKPPQ-----955
SCN5A---------------------------EEN>S<LGTEEE-------------SSKQQESQPVS1083
SCN7A---------------------------EIQ>S<KSGDGG-------------SK---E-----864
SCN8A---------------------------DVS>S<ESDPEG-------------SK---D-----1124
SCN9A---------------------------ELS>S<DSDSEY-------------SK---V-----1106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 845 for CACNA1C.