Paralogue Annotation for CACNA1C residue 834

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 834
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 834

No paralogue variants have been mapped to residue 834 for CACNA1C.



CACNA1CSPPA-----------TKINMDDLQPNENED>K<----SPYPNP---ET-----TGEEDEEEP-851
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1D---------------NKVTIDDYRE-EDED>K<----DPYPPC---DVPVGEEEEEEEEDEP-857
CACNA1ERGSG----------LAG-GLD--------->-<---------EADTPL-----VLPHPELEVG1016
CACNA1F---------------EK-------E-EEE->G<----ARREGA---DMEEEEEEEEEEEEEE-822
CACNA1GRTASGR--GSASEHQDCNGKS---ASGRLA>R<ALRPDD---P---PL-----DGDDADDEG-1228
CACNA1HPRPLRPAALPPTKCRDRDGQV---VALPSD>F<FLRIDS---H---RE-----DAAELDDDS-1246
CACNA1IPRAAWRAAGPAPGHEDCNGRM---PSIAKD>V<FTKMGD-------RG-----DRGEDEEEI-1122
CACNA1SIPTT-----------AKLKIDEFESNVNEV>K<----DPYPSA---DF-----PGDDEEDEP-750
SCN10ACGDHLTPRSPGTGTSSEDLAP---SLG--->-<-------------E-----TWKDESVPQV-1073
SCN11A------------------------------>-<-------------------NAQRITQPEP-942
SCN1A------------------------------>-<-------------------DFSSESDLEE-1140
SCN2A------------------------------>-<-------------------EFSSESDMEE-1130
SCN3A------------------------------>-<-------------------EFSSESELEE-1128
SCN4A------------------------------>-<-------------------ETDTFSEPED-949
SCN5A------------------------------>-<-------------------EENSLGTEEE-1072
SCN7A------------------------------>-<-------------------EIQSKSGDGG-861
SCN8A------------------------------>-<-------------------DVSSESDPEG-1121
SCN9A------------------------------>-<-------------------ELSSDSDSEY-1103
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K834Ec.2500A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013 6(3):279-89. 23677916