Paralogue Annotation for CACNA1C residue 858

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 858
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 858

No paralogue variants have been mapped to residue 858 for CACNA1C.



CACNA1C------------------------EMPVGP>R<P-----------------------------859
CACNA1ADPPLAEDIDNMKNNKLATAESAAPHGSLGH>A<GLPQSPAKMGNSTDPGPMLAIPAMATNPQN1119
CACNA1B---------------------EKE------>-<-ATEKEAEIVEADKEKELR-NHQPREPHCD1029
CACNA1D------------------------EVPAGP>R<P-----------------------------865
CACNA1E------------------------------>-<-MGRVI-------S------QSEPDLSCIT1057
CACNA1F------------------------EEEGAG>G<V-----------------------------830
CACNA1G------------------------NLSKGE>R<V-----------------------------1236
CACNA1H------------------------EDSCCL>R<L-----------------------------1254
CACNA1I------------------------DYTLCF>R<V-----------------------------1130
CACNA1S------------------------EIPLSP>R<P-----------------------------758
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<--HQENKK------PT---------SQRVQ962
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A-------------GGPEAP-----PDSRTW>S<QVSATASS------EA---------EASAS1111
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R858Hc.2573G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487
Inherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430
Inherited ArrhythmiaLQTS Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace. 2014 24728418