Paralogue Annotation for CACNA1C residue 1889

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1889
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1889

No paralogue variants have been mapped to residue 1889 for CACNA1C.



CACNA1CRQL--------TLPEEDKRDIRQSPKRGFL>R<SA-SL-GR-R-ASFHLECLKRQKDRGGDIS1915
CACNA1ADTGL---------------GTDLSMTTQSG>D<LP------SK-ERDQERGRPKDR-------2206
CACNA1BDGAP---------------SSAVGPGLPPG>E<GPTGC-RRER-ERRQERGRSQERRQPSSSS2122
CACNA1DRGYHHPQGFLEDDDSPVCYDSRRSPRRRLL>P<PT-PASHR-R-SSFNFECLRRQSSQEEVPS1959
CACNA1EDSGH---------------KSDT------->-<--------HR-SGGRERGRSKERKHLLSPD2096
CACNA1F-LP--------PHRAQRYMDGHLVPRRRLL>P<PT-PA-GR-K-PSFTIQCLQRQGSCEDLPI1819
CACNA1GAQQ--------HSR------SHSKISKHMT>P<PA-PCPGP-E-PNWGKGPPETRSSLELDTE2220
CACNA1H------------------------------>-<-G-PEASP-V-AGGE---------------2129
CACNA1I-------------------------RRALG>P<PA-PAPGP-R-AGLS---------------2060
CACNA1S---------------------PATRGRALG>Q<PCRVL-GP-H-SKPCVEMLKG---------1724
SCN10A------------------------------>-<---RG-LSDR-VNMRT--------------1936
SCN11A------------------------------>-<---SF-GVAK--------------------1785
SCN1A------------------------------>-<---KP-IVEK-HE-----------------1998
SCN2A------------------------------>-<---KP-EKEK-FE-----------------1987
SCN3A------------------------------>-<---KP-DKEK-FE-----------------1982
SCN4A------------------------------>-<---IS-PSDTAWP-----------------1818
SCN5A------------------------------>-<---RA-TSDN-LQVRG--------------1992
SCN7A------------------------------>-<---------K--------------------1675
SCN8A------------------------------>-<---KP-EKEK-QQRAE--------------1962
SCN9A------------------------------>-<---KP-DKEK-YE-----------------1959
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1889Cc.5665C>T ConflictSIFT: deleterious
Polyphen: benign
ReportsOther Cardiac Phenotype Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171
Other Cardiac Phenotype Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes. Arch Cardiol Mex. 2015 85(1):68-72. doi: 10.1016/j.acmx.2014.12.006. 25661095
p.R1889Hc.5666G>A Putative BenignSIFT: tolerated
Polyphen: benign