Paralogue Annotation for CACNA1C residue 1880

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1880
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1880

No paralogue variants have been mapped to residue 1880 for CACNA1C.



CACNA1CMLSYQDDENRQL--------TLPEEDKRDI>R<QSPKRGFLRSA-SL-GR-R-ASFHLECLKR1906
CACNA1AGRYTDV---DTGL---------------GT>D<LSMTTQSGDLP------SK-ERDQERGRPK2204
CACNA1BSLSADM---DGAP---------------SS>A<VGPGLPPGEGPTGC-RRER-ERRQERGRSQ2113
CACNA1DGRNIDSERPRGYHHPQGFLEDDDSPVCYDS>R<RSPRRRLLPPT-PASHR-R-SSFNFECLRR1950
CACNA1EAHRLNS---DSGH---------------KS>D<T----------------HR-SGGRERGRSK2087
CACNA1F----------LP--------PHRAQRYMDG>H<LVPRRRLLPPT-PA-GR-K-PSFTIQCLQR1810
CACNA1G---------AQQ--------HSR------S>H<SKISKHMTPPA-PCPGP-E-PNWGKGPPET2211
CACNA1H------------------------------>-<----------G-PEASP-V-AGGE------2129
CACNA1I------------------------------>-<---RRALGPPA-PAPGP-R-AGLS------2060
CACNA1SPEETET------------------------>P<ATRGRALGQPCRVL-GP-H-SKPCVEMLKG1724
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.R1880Qc.5639G>A Inherited ArrhythmiaBrSSIFT: tolerated
Polyphen:
ReportsInherited ArrhythmiaBrS Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010 7(12):1872-82. 20817017
Inherited ArrhythmiaBrS High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114
Inherited ArrhythmiaBrS Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.R1880Wc.5638C>T Putative BenignSIFT:
Polyphen: