| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | M350V | Dravet syndrome | Medium | 8 | 26096185 |
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 | NYLLKNGTSDVLLCGNSSDAG-T-C-PEGY>R<CLKAGENPDHGYTSFDSFAWAFLALFRLMT | 370 |
| SCN1A | YHYFLEGFLDALLCGNSSDAG-Q-C-PEGY>M<CVKAGRNPNYGYTSFDTFSWAFLSLFRLMT | 380 |
| SCN2A | HFYFLEGQNDALLCGNSSDAG-Q-C-PEGY>I<CVKAGRNPNYGYTSFDTFSWAFLSLFRLMT | 382 |
| SCN3A | HFYVLDGQKDPLLCGNGSDAG-Q-C-PEGY>I<CVKAGRNPNYGYTSFDTFSWAFLSLFRLMT | 381 |
| SCN4A | NFYFLEGSNDALLCGNSSDAG-H-C-PEGY>E<CIKTGRNPNYGYTSYDTFSWAFLALFRLMT | 404 |
| SCN7A | NFYYLEGERYALLCGNRTDAG-Q-C-PEGY>V<CVKAGINPDQGFTNFDSFGWALFALFRLMA | 351 |
| SCN8A | NFYTVPGMLEPLLCGNSSDAG-Q-C-PEGY>Q<CMKAGRNPNYGYTSFDTFSWAFLALFRLMT | 368 |
| SCN9A | YFYYLEGSKDALLCGFSTDSG-Q-C-PEGY>T<CVKIGRNPDYGYTSFDTFSWAFLALFRLMT | 359 |
| SCN10A | IYINKRGTSDPLLCGNGSDSG-H-C-PDGY>I<CLKTSDNPDFNYTSFDSFAWAFLSLFRLMT | 354 |
| SCN11A | CFEKKENSPEFKMCGIWMGNS-A-C-SIQY>E<CKHTKINPDYNYTNFDNFGWSFLAMFRLMT | 357 |
| CACNA1A | ------E--SPAPCGTEEPA-RT-C-PNGT>K<CQPYWEGPNNGITQFDNILFAVLTVFQCIT | 316 |
| CACNA1B | ------V--GDFPCGKEAPA-RL-C-EGDT>E<CREYWPGPNFGITNFDNILFAILTVFQCIT | 312 |
| CACNA1C | ------D--DPSPCALETGHGRQ-CQN-GT>V<CKPGWDGPKHGITNFDNFAFAMLTVFQCIT | 361 |
| CACNA1D | ------E--DPAPCAFSGNGR-Q-CTANGT>E<CRSGWVGPNGGITNFDNFAFAMLTVFQCIT | 362 |
| CACNA1E | ------D--PPHPCGVQG------C-PAGY>E<C-KDWIGPNDGITQFDNILFAVLTVFQCIT | 307 |
| CACNA1F | ------E--DPSPCASSGSGR-A-CTLNQT>E<CRGRWPGPNGGITNFDNFFFAMLTVFQCVT | 328 |
| CACNA1G | YEAYNS---------SSNTTC-VNWNQYYT>N<CSAGEHNPFKGAINFDNIGYAWIAIFQVIT | 352 |
| CACNA1H | WEAYTQP--QAEGVGAARNAC-INWNQYYN>V<CRSGDSNPHNGAINFDNIGYAWIAIFQVIT | 376 |
| CACNA1I | DDVYDFG--AGRQDLNASGLC-VNWNRYYN>V<CRTGSANPHKGAINFDNIGYAWIVIFQVIT | 355 |
| CACNA1S | ------E--EPSPCARTGSGR-R-CTINGS>E<CRGGWPGPNHGITHFDNFGFSMLTVYQCIT | 290 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R340Q | c.1019G>A | Inherited Arrhythmia | LQTS,AF | rs191009474 | SIFT: tolerated Polyphen: benign |
| 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 | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
| Inherited Arrhythmia | AF | High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113 | |||
| p.R340W | c.1018C>T | Inherited Arrhythmia | LQTS | rs199473094 | SIFT: deleterious Polyphen: possibly 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 | ||
| Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
| p.R340L | c.1019G>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
| p.R340P | c.1019G>C | Putative Benign | rs191009474 | SIFT: tolerated Polyphen: possibly damaging | |