Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN1A | R1642S | Myoclonic epilepsy of infancy | High | 4 | 23195492 |
CACNA1G | R1715H | Cerebellar ataxia, autosomal dominant | High | 4 | 26456284, 26715324 |
SCN1A | R1642M | Dravet syndrome | High | 4 | 25459968 |
SCN4A | R1454W | Congenital myasthenic syndrome with periodic paral | High | 4 | 26659129 |
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 | ---------------KYFFSPTLFRVIRLA>R<IGRILRLIRGAKGIRTLLFALMMSLPALFN | 1659 |
SCN1A | ---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN | 1672 |
SCN2A | ---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN | 1662 |
SCN3A | ---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN | 1657 |
SCN4A | ---------------KYFVSPTLFRVIRLA>R<IGRVLRLIRGAKGIRTLLFALMMSLPALFN | 1484 |
SCN7A | ---------------SYLVPPSLVQLILLS>R<IIHMLRLGKGPKVFHNLMLPLMLSLPALLN | 1382 |
SCN8A | ---------------KYFVSPTLFRVIRLA>R<IGRILRLIKGAKGIRTLLFALMMSLPALFN | 1653 |
SCN9A | ---------------TYFVSPTLFRVIRLA>R<IGRILRLVKGAKGIRTLLFALMMSLPALFN | 1635 |
SCN10A | --------------LQSYFSPTLFRVIRLA>R<IGRILRLIRAAKGIRTLLFALMMSLPALFN | 1609 |
SCN11A | --------------EHIPFPPTLFRIVRLA>R<IGRILRLVRAARGIRTLLFALMMSLPSLFN | 1499 |
CACNA1A | -----------------FINLSFLRLFRA->-<-ARLIKLLRQGYTIRILLWTFVQSFKALPY | 1694 |
CACNA1B | ---------------NNFINLSFLRLFRA->-<-ARLIKLLRQGYTIRILLWTFVQSFKALPY | 1602 |
CACNA1C | TQ----CSPSMNAEENSRISITFFRLFRV->-<-MRLVKLLSRGEGIRTLLWTFIKSFQALPY | 1362 |
CACNA1D | ENVPVPTATPGNSEESNRISITFFRLFRV->-<-MRLVKLLSRGEGIRTLLWTFIKSFQALPY | 1372 |
CACNA1E | --------------NTSGFNMSFLKLFRA->-<-ARLIKLLRQGYTIRILLWTFVQSFKALPY | 1609 |
CACNA1F | LG----E----SSEDSSRISITFFRLFRV->-<-MRLVKLLSKGEGIRTLLWTFIKSFQALPY | 1329 |
CACNA1G | --------------ASLPINPTIIRIMRVL>R<IARVLKLLKMAVGMRALLDTVMQALPQVGN | 1745 |
CACNA1H | --------------AALPINPTIIRIMRVL>R<IARVLKLLKMATGMRALLDTVVQALPQVGN | 1751 |
CACNA1I | --------------AALPINPTIIRIMRVL>R<IARVLKLLKMATGMRALLDTVVQALPQVGN | 1621 |
CACNA1S | LYCLGGGCGNVDPDESARISSAFFRLFRV->-<-MRLIKLLSRAEGVRTLLWTFIKSFQALPY | 1269 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1629G | c.4885C>G | Inherited Arrhythmia | BrS | rs199473284 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):531-9. 19843921 | ||
p.R1629Q | c.4886G>A | Inherited Arrhythmia | BrS | rs199473623 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||
Inherited Arrhythmia | BrS | Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. PLoS One. 2013 8(10):e78382. doi: 10.1371/journal.pone.0078382. 24167619 |