| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN9A | F1449V | Erythermalgia, primary | High | 9 | 15958509, 21289137, 26920677 |
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 | NLYMYIYFVIFIIFGSFFTLNLFIGVIIDN>F<NQQKKKLGGQDIFMTEEQKKYY------NA | 1497 |
| SCN1A | SLYMYLYFVIFIIFGSFFTLNLFIGVIIDN>F<NQQKKKFGGQDIFMTEEQKKYY------NA | 1510 |
| SCN2A | NLYMYLYFVIFIIFGSFFTLNLFIGVIIDN>F<NQQKKKFGGQDIFMTEEQKKYY------NA | 1500 |
| SCN3A | NLYMYLYFVIFIIFGSFFTLNLFIGVIIDN>F<NQQKKKFGGQDIFMTEEQKKYY------NA | 1495 |
| SCN4A | NLYMYLYFVIFIIFGSFFTLNLFIGVIIDN>F<NQQKKKLGGKDIFMTEEQKKYY------NA | 1322 |
| SCN7A | NIYMYCYFINFIIFGVFLPLSMLITVIIDN>F<NKHKIKLGGSNIFITVKQRKQY------RR | 1220 |
| SCN8A | NIYMYIYFVIFIIFGSFFTLNLFIGVIIDN>F<NQQKKKFGGQDIFMTEEQKKYY------NA | 1491 |
| SCN9A | SLYMYIYFVVFIIFGSFFTLNLFIGVIIDN>F<NQQKKKLGGQDIFMTEEQKKYY------NA | 1473 |
| SCN10A | NVYMYLYFVIFIIFGGFFTLNLFVGVIIDN>F<NQQKKKLGGQDIFMTEEQKKYY------NA | 1445 |
| SCN11A | NSLGYIYFVVFIIFGSFFTLNLFIGVIIDN>F<NQQQKKLGGQDIFMTEEQKKYY------NA | 1335 |
| CACNA1A | RMEMSIFYVVYFVVFPFFFVNIFVALIIIT>F<QEQGDKM----MEEYSLEKNER------AC | 1534 |
| CACNA1B | RMELSIFYVVYFVVFPFFFVNIFVALIIIT>F<QEQGDKV----MSECSLEKNER------AC | 1440 |
| CACNA1C | RVEISIFFIIYIIIIAFFMMNIFVGFVIVT>F<QEQGEQE----YKNCELDKNQR------QC | 1189 |
| CACNA1D | RVEISIFFIIYIIIVAFFMMNIFVGFVIVT>F<QEQGEKE----YKNCELDKNQR------QC | 1195 |
| CACNA1E | RMEMSIFYVVYFVVFPFFFVNIFVALIIIT>F<QEQGDKM----MEECSLEKNER------AC | 1446 |
| CACNA1F | RVEISVFFIVYIIIIAFFMMNIFVGFVIIT>F<RAQGEQE----YQNCELDKNQR------QC | 1160 |
| CACNA1G | NPWMLLYFISFLLIVAFFVLNMFVGVVVEN>F<HKCRQHQEEEEARRREEKRLRRLEKKRRNL | 1570 |
| CACNA1H | NPWMLLYFISFLLIVSFFVLNMFVGVVVEN>F<HKCRQHQEAEEARRREEK----------RL | 1578 |
| CACNA1I | NPWMLLYFISFLLIVSFFVLNMFVGVVVEN>F<HKCRQHQEAEEARRREEK----------RL | 1454 |
| CACNA1S | RVEMAIFFIIYIILIAFFMMNIFVGFVIVT>F<QEQGETE----YKNCELDKNQR------QC | 1088 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F1473C | c.4418T>G | Inherited Arrhythmia | LQTS | rs199473256 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. PLoS One. 2007 2(12):e1258. 18060054 | ||
| 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 | Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics. J Gen Physiol. 2013 141(1):61-72. doi: 10.1085/jgp.201210899. 23277474 | |||
| p.F1473S | c.4418T>C | Inherited Arrhythmia | LQTS | rs199473256 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3. Circ Res. 2010 106(8):1374-83. 20339117 | ||