Paralogue Annotation for CACNA1C residue 2014

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2014
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2014

No paralogue variants have been mapped to residue 2014 for CACNA1C.



CACNA1CNSSFPSIHCGSWAETTPGGGGSSAARRVRP>V<SLMVPSQA---GAPGRQFHGSASSLVEA--2039
CACNA1A------------------------------>-<------------------------------
CACNA1BS--PIHFA--------------------GA>Q<TSLPAFSP---GRLSRGLSEHNA-----LL2240
CACNA1DNGSLPSLHRSSWYTDEP----DISYRTFTP>A<SLTVPSSF---RNKNSDKQRSADSLVEA--2084
CACNA1EH--AGSIS--------------------PP>A<DGSEEGSP---LT-SQALESNNACLTESSN2212
CACNA1FLGRS-----------------SGPLRTFT->-<CLHVPGTH---SDPSHGKRGSADSLVEA--1901
CACNA1GQRRPTSWLDEQRRHSIAVSCLDSGSQPHLG>T<DPSNLGG---QPLGGPGSRPKKKLSPPS--2310
CACNA1HLDKPGR-ADEQWRPSAELGSGEP------->G<EAKAWGP---EAEPALGARRKKKMSPPC--2191
CACNA1IFSLRG--LRAHQRSHSSGGSTSPGCTHHDS>M<DPSDEEGRGGAGGGGAGSEHSETLSSLS--2131
CACNA1SSSTPGSLHE-----ETP------------->-<--HSRSTR---ENTSRCSAPATALLIQK--1790
SCN10A---E-------------------------->-<-----------------------A------1946
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A---L-------------------------->-<-----------------------A------2002
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2014Ic.6040G>A Inherited ArrhythmiaBrSrs199473660SIFT: 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