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---ASGRLARAL | 1212 |
CACNA1H | ---R-----------AES--------LDPR>P<LRPAALPPTKCRDRDGQV---VALPSDFFL | 1230 |
CACNA1I | HRHHRRTLSLDNRDSVDLAELVPAVGAHPR>A<AWRAAGPAPGHEDCNGRM---PSIAKDVFT | 1107 |
CACNA1S | ---------------------------GIP>T<T-----------AKLKIDEFESNVNEVK-- | 733 |
SCN10A | -----------------------R----CG>D<HLTPRSPGTGTSSEDLAP---SLG------ | 1062 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P817S | c.2449C>T | Conflict | rs112532048 | SIFT: tolerated Polyphen: benign | |
Reports | Other 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 |