Paralogue Annotation for CACNA1C residue 1911

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1911
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1911

No paralogue variants have been mapped to residue 1911 for CACNA1C.



CACNA1CRGFLRSA-SL-GR-R-ASFHLECLKRQKDR>G<GDIS-----Q----------------KTVL1920
CACNA1ATQSGDLP------SK-ERDQERGRPKDR-->-<--------------------------K---2207
CACNA1BLPPGEGPTGC-RRER-ERRQERGRSQERRQ>P<SSSSS----EKQRFYSCDRFGGREPPKPK-2143
CACNA1DRRLLPPT-PASHR-R-SSFNFECLRRQSSQ>E<EVPSSPIFPH----------------RTAL1969
CACNA1E-------------HR-SGGRERGRSKERKH>L<LSPDV----SRCN--SEER-GTQADW-ES-2113
CACNA1FRRLLPPT-PA-GR-K-PSFTIQCLQRQGSC>E<DLPIPGTY----------------------1823
CACNA1GKHMTPPA-PCPGP-E-PNWGKGPPETRSSL>E<LDTE--------------------------2220
CACNA1H------G-PEASP-V-AGGE---------->-<------------------------------2129
CACNA1IRALGPPA-PAPGP-R-AGLS---------->-<------------------------------2060
CACNA1SRALGQPCRVL-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.G1911Rc.5731G>C Inherited ArrhythmiaSIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis. PLoS One. 2014 9(9):e106982. doi: 10.1371/journal.pone.0106982. e 25184293
Inherited ArrhythmiaBrS Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PLoS One. 2015 10(7):e0133037. doi: 10.1371/journal.pone.0133037. 26230511
p.G1911Ec.5732G>A Putative BenignSIFT:
Polyphen: