Paralogue Annotation for CACNA1C residue 1916

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1916
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1916

No paralogue variants have been mapped to residue 1916 for CACNA1C.



CACNA1C-GR-R-ASFHLECLKRQKDRGGDIS----->Q<----------------KTVLPLHLVHHQAL1930
CACNA1A---SK-ERDQERGRPKDR------------>-<----------------K-----------HR2209
CACNA1B-RRER-ERRQERGRSQERRQPSSSSS---->E<KQRFYSCDRFGGREPPKPK--PSLSSHPTS2152
CACNA1DSHR-R-SSFNFECLRRQSSQEEVPSSPIFP>H<----------------RTALPLHLMQQQIM1979
CACNA1E---HR-SGGRERGRSKERKHLLSPDV---->S<RCN--SEER-GTQADW-ES--PE-RRQSRS2121
CACNA1F-GR-K-PSFTIQCLQRQGSCEDLPIPGTY->-<------------------------------1823
CACNA1GPGP-E-PNWGKGPPETRSSLELDTE----->-<------------------------------2220
CACNA1HASP-V-AGGE-------------------->-<------------------------------2129
CACNA1IPGP-R-AGLS-------------------->-<------------------------------2060
CACNA1S-GP-H-SKPCVEMLKG-------------->-<-----------------------------L1725
SCN10A-LSDR-VNMRT------------------->-<------------------------------1936
SCN11A-GVAK------------------------->-<------------------------------1785
SCN1A-IVEK-HE---------------------->-<------------------------------1998
SCN2A-EKEK-FE---------------------->-<------------------------------1987
SCN3A-DKEK-FE---------------------->-<------------------------------1982
SCN4A-PSDTAWP---------------------->-<------------------------------1818
SCN5A-TSDN-LQVRG------------------->-<------------------------------1992
SCN7A----K------------------------->-<------------------------------1675
SCN8A-EKEK-QQRAE------------------->-<------------------------------1962
SCN9A-DKEK-YE---------------------->-<------------------------------1959
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1916Rc.5747A>G Other Cardiac PhenotypeSIFT: deleterious
Polyphen: benign
ReportsOther Cardiac Phenotype Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study. Heart Rhythm. 2016 13(7):1544-51. doi: 10.1016/j.hrthm.2016.03.038. 27005929