| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN2A | R188W | Febrile and afebrile seizures | High | 9 | 11371648, 15301839 |
| SCN9A | R185H | Small fibre neuropathy | High | 9 | 21698661, 22035805, 22826602, 23895530, 24817410 |
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 | EYTFTA-IYTFESLVKILARGFCLHAFTFL>R<DPWNWLDFSVIIMAYVSENIKLG------- | 213 |
| SCN1A | EYTFTG-IYTFESLIKIIARGFCLEDFTFL>R<DPWNWLDFTVITFAYVTEFVDLG------- | 210 |
| SCN2A | EYTFTG-IYTFESLIKILARGFCLEDFTFL>R<DPWNWLDFTVITFAYVTEFVDLG------- | 211 |
| SCN3A | EYTFTG-IYTFESLIKILARGFCLEDFTFL>R<DPWNWLDFSVIVMAYVTEFVDLG------- | 210 |
| SCN4A | EYTFTG-IYTFESLIKILARGFCVDDFTFL>R<DPWNWLDFSVIMMAYLTEFVDLG------- | 213 |
| SCN7A | ENTLLG-IYTFEILVKLFARGVWAGSFSFL>G<DPWNWLDFSVTVFEVIIRYSPLD------- | 200 |
| SCN8A | EYTFTG-IYTFESLVKIIARGFCIDGFTFL>R<DPWNWLDFSVIMMAYITEFVNLG------- | 214 |
| SCN9A | EYTFTG-IYTFESLVKILARGFCVGEFTFL>R<DPWNWLDFVVIVFAYLTEFVNLG------- | 208 |
| SCN10A | EYVFTV-IYTFEALIKILARGFCLNEFTYL>R<DPWNWLDFSVITLAYVGTAIDLR------- | 209 |
| SCN11A | ECVFTG-IYIFEALIKILARGFILDEFSFL>R<DPWNWLDSIVIGIAIVSYIPGIT------- | 215 |
| CACNA1A | EPYFIG-IFCFEAGIKIIALGFAFHKGSYL>R<NGWNVMDFVVVLTGILATVGTEF------- | 189 |
| CACNA1B | EPYFIG-IFCFEAGIKIIALGFVFHKGSYL>R<NGWNVMDFVVVLTGILATAGTDF------- | 186 |
| CACNA1C | EYLFLI-IFTVEAFLKVIAYGLLFHPNAYL>R<NGWNLLDFIIVVVGLFSAILEQATKA-DGA | 221 |
| CACNA1D | EYAFLI-IFTVETFLKIIAYGLLLHPNAYV>R<NGWNLLDFVIVIVGLFSVILEQLTKETEGG | 224 |
| CACNA1E | EPYFIG-IFCFEAGIKIVALGFIFHKGSYL>R<NGWNVMDFIVVLSGILATAGTHFN------ | 181 |
| CACNA1F | EYVFLV-IFTVETVLKIVAYGLVLHPSAYI>R<NGWNLLDFIIVVVGLFSVLLEQGPGRPGDA | 190 |
| CACNA1G | FDDFIFAFFAVEMVVKMVALGI-FGKKCYL>G<DTWNRLDFFIVIAGMLEYSLDLQ------- | 172 |
| CACNA1H | FDAFIFAFFAVEMVIKMVALGL-FGQKCYL>G<DTWNRLDFFIVVAGMMEYSLDGH------- | 191 |
| CACNA1I | FDDFIFIFFAMEMVLKMVALGI-FGKKCYL>G<DTWNRLDFFIVMAGMVEYSLDLQ------- | 170 |
| CACNA1S | EYFFLI-VFSIEAAMKIIAYGFLFHQDAYL>R<SGWNVLDFTIVFLGVFTVILEQVNVIQSHT | 149 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R190G | c.568C>G | Inherited Arrhythmia | LQTS | rs199473068 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425 | ||
| Inherited Arrhythmia | LQTS | Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases. J Electrocardiol. 2012 45(3):237-43. 22402334 | |||
| p.R190Q | c.569G>A | Inherited Arrhythmia | LQTS | rs199473069 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | ||
| Inherited Arrhythmia | LQTS | Recurrent torsades de pointes after catheter ablation of incessant ventricular bigeminy in combination with QT prolongation. Europace. 2012 14(2):299-300. doi: 10.1093/europace/eur278. 21908450 | |||
| p.R190L | c.569G>T | Putative Benign | SIFT: Polyphen: | ||
| p.R190W | c.568C>T | Putative Benign | SIFT: Polyphen: | ||