| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | R618C | Epilepsy with febrile seizures plus & Dravet syndr | Medium | 3 | 25795284 |
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 SCN5A.
| SCN5A | -DFADDENSTAGESESHHTSLLVPWPL--R>R<T-SA---QGQPSPGTSA----P--GHALHG | 589 |
| SCN1A | -DFADDEHSTFEDNESRRDSLFVPRRHGER>R<N-----------SNLSQ----T--SRSSRM | 631 |
| SCN2A | -DFADDEHSTFEDNDSRRDSLFVPHRHGER>R<H-----------SNVSQ----A--SRASRV | 634 |
| SCN3A | -DFADDEHSTFEDSESRRDSLFVPHRHGER>R<N-----------SNVSQ----A--SMSSRM | 634 |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | -EFADDEHSTVEESEGRRDSLFIPIRARER>R<S------SYSGYSGYSQ----G--SRSSRI | 629 |
| SCN9A | -EFADDEHSIFGDNESRRGSLFVPHRPQER>R<S-----------SNISQ----A--SRSP-- | 609 |
| SCN10A | -GVTDDG-VFPGDHESHRGSLLLGGGAGQQ>G<------------PLPRSPLPQP--SNP--- | 560 |
| SCN11A | ------------------------------>-<------------------------------ | |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | ------------------------------>-<------------------------------ | |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | ------------------------------>-<------------------------------ | |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | APPGGAESVHSFYHADCHLEPVRCQAPP-->-<PRSPSEASG-RTV--GS----G--KVYPTV | 593 |
| CACNA1H | GPPD-AESVHSIYHADCHIEGPQERARVAH>A<AATA-AASL-R-LATGL----GTMN-YPTI | 616 |
| CACNA1I | -SPGNDHSGRELCPQHSPLDATPHTLVQPI>P<A----------------------------- | 544 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R569W | c.1705C>T | Inherited Arrhythmia | LQTS | rs199473576 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.R569Q | c.1706G>A | Putative Benign | SIFT: Polyphen: | ||
| p.R569G | c.1705C>G | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | BrS | Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. Circ Cardiovasc Genet. 2015 8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. 25904541 | ||
| p.Arg569Gly | c.1705C>G | Unknown | SIFT: Polyphen: | ||