No paralogue variants have been mapped to residue 397 for SCN5A.
| SCN5A | LMTQDCWERLYQQTLRSAGKIY-MIFFMLV>I<FLGSFYLVNLILAVVAMAYEEQNQATIAET | 427 |
| SCN1A | LMTQDFWENLYQLTLRAAGKTY-MIFFVLV>I<FLGSFYLINLILAVVAMAYEEQNQATLEEA | 437 |
| SCN2A | LMTQDFWENLYQLTLRAAGKTY-MIFFVLV>I<FLGSFYLINLILAVVAMAYEEQNQATLEEA | 439 |
| SCN3A | LMTQDYWENLYQLTLRAAGKTY-MIFFVLV>I<FLGSFYLVNLILAVVAMAYEEQNQATLEEA | 438 |
| SCN4A | LMTQDYWENLFQLTLRAAGKTY-MIFFVVI>I<FLGSFYLINLILAVVAMAYAEQNEATLAED | 461 |
| SCN7A | LMAQDYPEVLYHQILYASGKVY-MIFFVVV>S<FLFSFYMASLFLGILAMAYEEEKQRVGEIS | 408 |
| SCN8A | LMTQDYWENLYQLTLRAAGKTY-MIFFVLV>I<FVGSFYLVNLILAVVAMAYEEQNQATLEEA | 425 |
| SCN9A | LMTQDYWENLYQQTLRAAGKTY-MIFFVVV>I<FLGSFYLINLILAVVAMAYEEQNQANIEEA | 416 |
| SCN10A | LMTQDSWERLYQQTLRTSGKIY-MIFFVLV>I<FLGSFYLVNLILAVVTMAYEEQNQATTDEI | 411 |
| SCN11A | LMTQDSWEKLYQQTLRTTGLYS-VFFFIVV>I<FLGSFYLINLTLAVVTMAYEEQNKNVAAEI | 414 |
| CACNA1A | CITMEGWTDLLYNSNDASGNTWNWLYFIPL>I<IIGSFFMLNLVLGVLSGEFAKERERVENRR | 374 |
| CACNA1B | CITMEGWTDILYNTNDAAGNTWNWLYFIPL>I<IIGSFFMLNLVLGVLSGEFAKERERVENRR | 370 |
| CACNA1C | CITMEGWTDVLYWVNDAVGRDWPWIYFVTL>I<IIGSFFVLNLVLGVLSGEFSKEREKAKARG | 419 |
| CACNA1D | CITMEGWTDVLYWVNDAIGWEWPWVYFVSL>I<ILGSFFVLNLVLGVLSGEFSKEREKAKARG | 420 |
| CACNA1E | CITMEGWTTVLYNTNDALGATWNWLYFIPL>I<IIGSFFVLNLVLGVLSGEFAKERERVENRR | 365 |
| CACNA1F | CVTMEGWTDVLYWMQDAMGYELPWVYFVSL>V<IFGSFFVLNLVLGVLSGEFSKEREKAKARG | 386 |
| CACNA1G | VITLEGWVDIMYFVMDAHSF-YNFIYFILL>I<IVGSFFMINLCLVVIATQFSETKQRESQLM | 409 |
| CACNA1H | VITLEGWVDIMYYVMDAHSF-YNFIYFILL>I<IVGSFFMINLCLVVIATQFSETKQRESQLM | 433 |
| CACNA1I | VITLEGWVEIMYYVMDAHSF-YNFIYFILL>I<IVGSFFMINLCLVVIATQFSETKQREHRLM | 412 |
| CACNA1S | CITMEGWTDVLYWVNDAIGNEWPWIYFVTL>I<LLGSFFILNLVLGVLSGEFTKEREKAKSRG | 348 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I397T | c.1190T>C | Inherited Arrhythmia | LQTS | rs199473105 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| p.I397V | c.1189A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2016 79(4):522-34. doi: 10.1002/ana.24596. 26704558 | |||
| p.I397F | c.1189A>T | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | BrS | Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. Circ Cardiovasc Genet. 2015 8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. 25904541 | ||