No paralogue variants have been mapped to residue 858 for CACNA1C.
CACNA1C | ------------------------EMPVGP>R<P----------------------------- | 859 |
CACNA1A | DPPLAEDIDNMKNNKLATAESAAPHGSLGH>A<GLPQSPAKMGNSTDPGPMLAIPAMATNPQN | 1119 |
CACNA1B | ---------------------EKE------>-<-ATEKEAEIVEADKEKELR-NHQPREPHCD | 1029 |
CACNA1D | ------------------------EVPAGP>R<P----------------------------- | 865 |
CACNA1E | ------------------------------>-<-MGRVI-------S------QSEPDLSCIT | 1057 |
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---------SQRVQ | 962 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | -------------GGPEAP-----PDSRTW>S<QVSATASS------EA---------EASAS | 1111 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R858H | c.2573G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | 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 Arrhythmia | LQTS | 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 Arrhythmia | LQTS | Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace. 2014 24728418 |