Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN5A | W1095X | Brugada syndrome and epilepsy | Medium | 1 | 23538271 |
SCN5A | W1095C | Long QT syndrome | Medium | 1 | 26669661 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.
CACNA1C | -------------------------EMPVG>P<RP---------------------------- | 859 |
CACNA1A | QDPPLAEDIDNMKNNKLATAESAAPHGSLG>H<AGLPQSPAKMGNSTDPGPMLAIPAMATNPQ | 1118 |
CACNA1B | ----------------------EKE----->-<--ATEKEAEIVEADKEKELR-NHQPREPHC | 1028 |
CACNA1D | -------------------------EVPAG>P<RP---------------------------- | 865 |
CACNA1E | ------------------------------>-<--MGRVI-------S------QSEPDLSCI | 1056 |
CACNA1F | -------------------------EEEGA>G<GV---------------------------- | 830 |
CACNA1G | -------------------------NLSKG>E<RV---------------------------- | 1236 |
CACNA1H | -------------------------EDSCC>L<RL---------------------------- | 1254 |
CACNA1I | -------------------------DYTLC>F<RV---------------------------- | 1130 |
CACNA1S | -------------------------EIPLS>P<RP---------------------------- | 758 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<---HQENKK------PT---------SQRV | 961 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | --------------GGPEAP-----PDSRT>W<SQVSATASS------EA---------EASA | 1110 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P857R | c.2570C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | 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 | ||
p.P857L | c.2570C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | 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 |