Paralogue Annotation for CACNA1C residue 817

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 817
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 817

No paralogue variants have been mapped to residue 817 for CACNA1C.



CACNA1C---------------------------ESP>P<A-----------TKINMDDLQPNENEDK--834
CACNA1A-----------------RRRRH-------->-<------------------------------1006
CACNA1B-----------------PARRH-------->-<------------------------------980
CACNA1D------------------------------>-<------------NKVTIDDYRE-EDEDK--835
CACNA1E-----------------DLRRTNSLMVSRG>S<G----------LAG-GLD------------1000
CACNA1F------------------------------>-<------------EK-------E-EEE-G--800
CACNA1G---HRGSLEREAKSSFDLPDTLQVPGLHRT>A<SGR--GSASEHQDCNGKS---ASGRLARAL1212
CACNA1H---R-----------AES--------LDPR>P<LRPAALPPTKCRDRDGQV---VALPSDFFL1230
CACNA1IHRHHRRTLSLDNRDSVDLAELVPAVGAHPR>A<AWRAAGPAPGHEDCNGRM---PSIAKDVFT1107
CACNA1S---------------------------GIP>T<T-----------AKLKIDEFESNVNEVK--733
SCN10A-----------------------R----CG>D<HLTPRSPGTGTSSEDLAP---SLG------1062
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P817Sc.2449C>T Conflictrs112532048SIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. Int J Cardiol. 2014 171(3):431-42. doi: 10.1016/j.ijcard.2013.12.084. 24439875