Paralogue Annotation for CACNA1C residue 1896

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1896
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1896

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AN1987KAtrial fibrillationLow2 18088563, 25637381

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-TLPEEDKRDIRQSPKRGFLRSA-SL-GR->R<-ASFHLECLKRQKDRGGDIS-----Q----1916
CACNA1A---------GTDLSMTTQSGDLP------S>K<-ERDQERGRPKDR-----------------2206
CACNA1B---------SSAVGPGLPPGEGPTGC-RRE>R<-ERRQERGRSQERRQPSSSSS----EKQRF2128
CACNA1DEDDDSPVCYDSRRSPRRRLLPPT-PASHR->R<-SSFNFECLRRQSSQEEVPSSPIFPH----1965
CACNA1E---------KSDT----------------H>R<-SGGRERGRSKERKHLLSPDV----SRCN-2101
CACNA1F-PHRAQRYMDGHLVPRRRLLPPT-PA-GR->K<-PSFTIQCLQRQGSCEDLPIPGTY------1823
CACNA1G-HSR------SHSKISKHMTPPA-PCPGP->E<-PNWGKGPPETRSSLELDTE----------2220
CACNA1H----------------------G-PEASP->V<-AGGE-------------------------2129
CACNA1I---------------RRALGPPA-PAPGP->R<-AGLS-------------------------2060
CACNA1S-----------PATRGRALGQPCRVL-GP->H<-SKPCVEMLKG-------------------1724
SCN10A------------------------RG-LSD>R<-VNMRT------------------------1936
SCN11A------------------------SF-GVA>K<------------------------------1785
SCN1A------------------------KP-IVE>K<-HE---------------------------1998
SCN2A------------------------KP-EKE>K<-FE---------------------------1987
SCN3A------------------------KP-DKE>K<-FE---------------------------1982
SCN4A------------------------IS-PSD>T<AWP---------------------------1818
SCN5A------------------------RA-TSD>N<-LQVRG------------------------1992
SCN7A------------------------------>K<------------------------------1675
SCN8A------------------------KP-EKE>K<-QQRAE------------------------1962
SCN9A------------------------KP-DKE>K<-YE---------------------------1959
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1896 for CACNA1C.