No paralogue variants have been mapped to residue 735 for SCN5A.
| SCN5A | SIKQGVKLVVMDPFTDLTITMCIVLNTLFM>A<LEHYNMTSEFEEMLQVGNLVFTGIFTAEMT | 765 |
| SCN1A | KVKHVVNLVVMDPFVDLAITICIVLNTLFM>A<MEHYPMTDHFNNVLTVGNLVFTGIFTAEMF | 816 |
| SCN2A | KVKHLVNLVVMDPFVDLAITICIVLNTLFM>A<MEHYPMTEQFSSVLSVGNLVFTGIFTAEMF | 807 |
| SCN3A | KVKHLVNLIVMDPFVDLAITICIVLNTLFM>A<MEHYPMTEQFSSVLTVGNLVFTGIFTAEMV | 808 |
| SCN4A | KFKNIIHLIVMDPFVDLGITICIVLNTLFM>A<MEHYPMTEHFDNVLTVGNLVFTGIFTAEMV | 626 |
| SCN7A | KLKEFVHRIIMAPFTDLFLIICIILNVCFL>T<LEHYPMSKQTNTLLNIGNLVFIGIFTAEMI | 553 |
| SCN8A | KLKEIVNLIVMDPFVDLAITICIVLNTLFM>A<MEHHPMTPQFEHVLAVGNLVFTGIFTAEMF | 801 |
| SCN9A | KFKKCIYFIVMDPFVDLAITICIVLNTLFM>A<MEHHPMTEEFKNVLAIGNLVFTGIFAAEMV | 781 |
| SCN10A | KLKTILFGLVTDPFAELTITLCIVVNTIFM>A<MEHHGMSPTFEAMLQIGNIVFTIFFTAEMV | 713 |
| SCN11A | CVKKVLRTVMTDPFTELAITICIIINTVFL>A<MEHHKMEASFEKMLNIGNLVFTSIFIAEMC | 625 |
| CACNA1A | RMRFYIRRMVKTQAFYWTVLSLVALNTLCV>A<IVHYNQPEWLSDFLYYAEFIFLGLFMSEMF | 535 |
| CACNA1B | MFRFFIRRMVKAQSFYWVVLCVVALNTLCV>A<MVHYNQPRRLTTTLYFAEFVFLGLFLTEMS | 531 |
| CACNA1C | FCRRKCRAAVKSNVFYWLVIFLVFLNTLTI>A<SEHYNQPNWLTEVQDTANKALLALFTAEML | 572 |
| CACNA1D | FNRRRCRAAVKSVTFYWLVIVLVFLNTLTI>S<SEHYNQPDWLTQIQDIANKVLLALFTCEML | 591 |
| CACNA1E | LLRISIRHMVKSQVFYWIVLSLVALNTACV>A<IVHHNQPQWLTHLLYYAEFLFLGLFLLEMS | 524 |
| CACNA1F | VLRARCRRAVKSNACYWAVLLLVFLNTLTI>A<SEHHGQPVWLTQIQEYANKVLLCLFTVEML | 577 |
| CACNA1G | LICDTFRKIVDSKYFGRGIMIAILVNTLSM>G<IEYHEQPEELTNALEISNIVFTSLFALEML | 791 |
| CACNA1H | TFSGKLRRIVDSKYFSRGIMMAILVNTLSM>G<VEYHEQPEELTNALEISNIVFTSMFALEML | 841 |
| CACNA1I | ETRAKLRGIVDSKYFNRGIMMAILVNTVSM>G<IEHHEQPEELTNILEICNVVFTSMFALEMI | 688 |
| CACNA1S | IFRWKCHDIVKSKVFYWLVILIVALNTLSI>A<SEHHNQPLWLTRLQDIANRVLLSLFTTEML | 480 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A735E | c.2204C>A | Inherited Arrhythmia | BrS | rs137854611 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation. 2000 102(20):2509-15. 11076825 | ||
| Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | |||
| p.A735T | c.2203G>A | Inherited Arrhythmia | BrS | rs199473151 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients. Rev Esp Cardiol. 2010 63(7):856-9. 20609320 | ||
| p.A735V | c.2204C>T | Inherited Arrhythmia | BrS | rs137854611 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002 11(3):337-45. 11823453 | |||
| 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 | |||
| Other Cardiac Phenotype | [Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. Arch Pediatr. 2012 19(8):837-41. 22795782 | ||||
| Other Cardiac Phenotype | Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations. Circ Arrhythm Electrophysiol. 2015 8(5):1228-39. doi: 10.1161/CIRCEP.115.003155. 26283144 | ||||