Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN1A | R1645Q | Myoclonic epilepsy of infancy | High | 7 | 17347258 |
CACNA1A | R1668W | Hemiplegic migraine with cerebellar signs | High | 7 | 11439943, 18437043 |
CACNA1S | R1242G | Normokalaemic periodic paralysis | High | 7 | 24240197 |
SCN4A | R1457H | Congenital myasthenic syndrome | High | 7 | 25707578, 25707578 |
SCN1A | R1645P | Dravet syndrome | High | 7 | 26096185 |
SCN1A | R1645X | Myoclonic epilepsy of infancy | High | 7 | 14738421 |
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 | ------------KYFFSPTLFRVIRLARIG>R<ILRLIRGAKGIRTLLFALMMSLPALFNIGL | 1662 |
SCN1A | ------------KYFVSPTLFRVIRLARIG>R<ILRLIKGAKGIRTLLFALMMSLPALFNIGL | 1675 |
SCN2A | ------------KYFVSPTLFRVIRLARIG>R<ILRLIKGAKGIRTLLFALMMSLPALFNIGL | 1665 |
SCN3A | ------------KYFVSPTLFRVIRLARIG>R<ILRLIKGAKGIRTLLFALMMSLPALFNIGL | 1660 |
SCN4A | ------------KYFVSPTLFRVIRLARIG>R<VLRLIRGAKGIRTLLFALMMSLPALFNIGL | 1487 |
SCN7A | ------------SYLVPPSLVQLILLSRII>H<MLRLGKGPKVFHNLMLPLMLSLPALLNIIL | 1385 |
SCN8A | ------------KYFVSPTLFRVIRLARIG>R<ILRLIKGAKGIRTLLFALMMSLPALFNIGL | 1656 |
SCN9A | ------------TYFVSPTLFRVIRLARIG>R<ILRLVKGAKGIRTLLFALMMSLPALFNIGL | 1638 |
SCN10A | -----------LQSYFSPTLFRVIRLARIG>R<ILRLIRAAKGIRTLLFALMMSLPALFNIGL | 1612 |
SCN11A | -----------EHIPFPPTLFRIVRLARIG>R<ILRLVRAARGIRTLLFALMMSLPSLFNIGL | 1502 |
CACNA1A | --------------FINLSFLRLFRA---A>R<LIKLLRQGYTIRILLWTFVQSFKALPYVCL | 1697 |
CACNA1B | ------------NNFINLSFLRLFRA---A>R<LIKLLRQGYTIRILLWTFVQSFKALPYVCL | 1605 |
CACNA1C | ---CSPSMNAEENSRISITFFRLFRV---M>R<LVKLLSRGEGIRTLLWTFIKSFQALPYVAL | 1365 |
CACNA1D | PVPTATPGNSEESNRISITFFRLFRV---M>R<LVKLLSRGEGIRTLLWTFIKSFQALPYVAL | 1375 |
CACNA1E | -----------NTSGFNMSFLKLFRA---A>R<LIKLLRQGYTIRILLWTFVQSFKALPYVCL | 1612 |
CACNA1F | ---E----SSEDSSRISITFFRLFRV---M>R<LVKLLSKGEGIRTLLWTFIKSFQALPYVAL | 1332 |
CACNA1G | -----------ASLPINPTIIRIMRVLRIA>R<VLKLLKMAVGMRALLDTVMQALPQVGNLGL | 1748 |
CACNA1H | -----------AALPINPTIIRIMRVLRIA>R<VLKLLKMATGMRALLDTVVQALPQVGNLGL | 1754 |
CACNA1I | -----------AALPINPTIIRIMRVLRIA>R<VLKLLKMATGMRALLDTVVQALPQVGNLGL | 1624 |
CACNA1S | LGGGCGNVDPDESARISSAFFRLFRV---M>R<LIKLLSRAEGVRTLLWTFIKSFQALPYVAL | 1272 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1632H | c.4895G>A | Other Cardiac Phenotype | rs199473286 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Other Cardiac Phenotype | Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003 112(7):1019-28. 14523039 | |||
Other Cardiac Phenotype | Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome. J Cardiovasc Electrophysiol. 2010 21(5):564-73. 20384651 | ||||
Other Cardiac Phenotype | Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010 5(6):e10985. 20539757 | ||||
p.R1632C | c.4894C>T | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | Enhanced fast-inactivated state stability of cardiac sodium channels by a novel voltage sensor SCN5A mutation, R1632C, as a cause of atypical Brugada syndrome. Heart Rhythm. 2015 12(11):2296-304. doi: 10.1016/j.hrthm.2015.05.032. 26031372 | ||
Inherited Arrhythmia | BrS | An R1632C variant in the SCN5A gene causing Brugada syndrome. Mol Med Rep. 2016 13(6):4677-80. doi: 10.3892/mmr.2016.5100. 27082542 | |||
p.Arg1632Cys | c.4894C>T | Unknown | SIFT: Polyphen: |