| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN2A | R1319Q | Neonatal-infantile seizures | High | 9 | 15048894, 18479388, 23360469 |
| CACNA1A | R1359W | Episodic ataxia 2 | High | 9 | 24091540, 26863999 |
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 | T----LGFAEMGPIKSLRTLRALRPLRALS>R<FEGMRVVVNALVGAIPSIMNVLLVCLIFWL | 1346 |
| SCN1A | A----LGYSELGAIKSLRTLRALRPLRALS>R<FEGMRVVVNALLGAIPSIMNVLLVCLIFWL | 1359 |
| SCN2A | A----LGYSELGAIKSLRTLRALRPLRALS>R<FEGMRVVVNALLGAIPSIMNVLLVCLIFWL | 1349 |
| SCN3A | A----LGYSELGAIKSLRTLRALRPLRALS>R<FEGMRVVVNALVGAIPSIMNVLLVCLIFWL | 1347 |
| SCN4A | W----LGYSELGPIKSLRTLRALRPLRALS>R<FEGMRVVVNALLGAIPSIMNVLLVCLIFWL | 1172 |
| SCN7A | T----RE--E---LKPLISMKFLRPLRVLS>Q<FERMKVVVRALIKTTLPTLNVFLVCLMIWL | 1070 |
| SCN8A | A----LGYSELGAIKSLRTLRALRPLRALS>R<FEGMRVVVNALVGAIPSIMNVLLVCLIFWL | 1339 |
| SCN9A | T----LGYSDLGPIKSLRTLRALRPLRALS>R<FEGMRVVVNALIGAIPSIMNVLLVCLIFWL | 1322 |
| SCN10A | I----LEYSEVAPIKALRTLRALRPLRALS>R<FEGMRVVVDALVGAIPSIMNVLLVCLIFWL | 1293 |
| SCN11A | ------N---LMELKSFRTLRALRPLRALS>Q<FEGMKVVVNALIGAIPAILNVLLVCLIFWL | 1190 |
| CACNA1A | N----SKGKDINTIKSLRVLRVLRPLKTIK>R<LPKLKAVFDCVVNSLKNVFNILIVYMLFMF | 1389 |
| CACNA1B | G----SKGKDINTIKSLRVLRVLRPLKTIK>R<LPKLKAVFDCVVNSLKNVLNILIVYMLFMF | 1295 |
| CACNA1C | G----IQSSAINVVKILRVLRVLRPLRAIN>R<AKGLKHVVQCVFVAIRTIGNIVIVTTLLQF | 1041 |
| CACNA1D | G----IQSSAISVVKILRVLRVLRPLRAIN>R<AKGLKHVVQCVFVAIRTIGNIMIVTTLLQF | 1047 |
| CACNA1E | A-LGTNKGRDIKTIKSLRVLRVLRPLKTIK>R<LPKLKAVFDCVVTSLKNVFNILIVYKLFMF | 1301 |
| CACNA1F | G----IHSSAISVVKILRVLRVLRPLRAIN>R<AKGLKHVVQCVFVAIRTIGNIMIVTTLLQF | 1012 |
| CACNA1G | MVSD-SGTKILGMLRVLRLLRTLRPLRVIS>R<AQGLKLVVETLMSSLKPIGNIVVICCAFFI | 1424 |
| CACNA1H | MASA-GGAKILGVLRVLRLLRTLRPLRVIS>R<APGLKLVVETLISSLRPIGNIVLICCAFFI | 1442 |
| CACNA1I | LASA-GGAKILGVLRVLRLLRTLRPLRVIS>R<APGLKLVVETLISSLKPIGNIVLICCAFFI | 1318 |
| CACNA1S | G----LESSAISVVKILRVLRVLRPLRAIN>R<AKGLKHVVQCMFVAISTIGNIVLVTTLLQF | 940 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1316P | c.3947G>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 | |||
| p.R1316Q | c.3947G>A | Putative Benign | SIFT: Polyphen: | ||
| p.R1316L | c.3947G>T | Putative Benign | SIFT: Polyphen: | ||