| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | N1338T | Dravet syndrome | High | 9 | 24901346, 25356970, 26795593 |
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 | EMGPIKSLRTLRALRPLRALSRFEGMRVVV>N<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1355 |
| SCN1A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALLGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1368 |
| SCN2A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALLGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1358 |
| SCN3A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1356 |
| SCN4A | ELGPIKSLRTLRALRPLRALSRFEGMRVVV>N<ALLGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1181 |
| SCN7A | E---LKPLISMKFLRPLRVLSQFERMKVVV>R<ALIKTTLPTLNVFLVCLMIWLIFSIMGVDL | 1079 |
| SCN8A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1348 |
| SCN9A | DLGPIKSLRTLRALRPLRALSRFEGMRVVV>N<ALIGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1331 |
| SCN10A | EVAPIKALRTLRALRPLRALSRFEGMRVVV>D<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1302 |
| SCN11A | -LMELKSFRTLRALRPLRALSQFEGMKVVV>N<ALIGAIPAILNVLLVCLIFWLVFCILGVYF | 1199 |
| CACNA1A | DINTIKSLRVLRVLRPLKTIKRLPKLKAVF>D<CVVNSLKNVFNILIVYMLFMFIFAVVAVQL | 1398 |
| CACNA1B | DINTIKSLRVLRVLRPLKTIKRLPKLKAVF>D<CVVNSLKNVLNILIVYMLFMFIFAVIAVQL | 1304 |
| CACNA1C | AINVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CVFVAIRTIGNIVIVTTLLQFMFACIGVQL | 1050 |
| CACNA1D | AISVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CVFVAIRTIGNIMIVTTLLQFMFACIGVQL | 1056 |
| CACNA1E | DIKTIKSLRVLRVLRPLKTIKRLPKLKAVF>D<CVVTSLKNVFNILIVYKLFMFIFAVIAVQL | 1310 |
| CACNA1F | AISVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CVFVAIRTIGNIMIVTTLLQFMFACIGVQL | 1021 |
| CACNA1G | ILGMLRVLRLLRTLRPLRVISRAQGLKLVV>E<TLMSSLKPIGNIVVICCAFFIIFGILGVQL | 1433 |
| CACNA1H | ILGVLRVLRLLRTLRPLRVISRAPGLKLVV>E<TLISSLRPIGNIVLICCAFFIIFGILGVQL | 1451 |
| CACNA1I | ILGVLRVLRLLRTLRPLRVISRAPGLKLVV>E<TLISSLKPIGNIVLICCAFFIIFGILGVQL | 1327 |
| CACNA1S | AISVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CMFVAISTIGNIVLVTTLLQFMFACIGVQL | 949 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N1325S | c.3974A>G | Inherited Arrhythmia | LQTS | rs28937317 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet. 1995 4(9):1603-7. 8541846 | ||
| Other Cardiac Phenotype | Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo. Cardiovasc Res. 2004 61(2):256-67. 14736542 | ||||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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 | |||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | LQTS mutation N1325S in cardiac sodium channel gene SCN5A causes cardiomyocyte apoptosis, cardiac fibrosis and contractile dysfunction in mice. Int J Cardiol. 2011 147(2):239-45. 19762097 | |||
| Inherited Arrhythmia | LQTS | Multiple mechanisms of Na+ channel--linked long-QT syndrome. Circ Res. 1996 78(5):916-24. 8620612 | |||
| Inherited Arrhythmia | LQTS | Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci U S A. 1996 93(23):13200-5. 8917568 | |||