| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | M379R | Dravet syndrome | High | 9 | 22612257 |
| SCN1A | M379K | Dravet syndrome | High | 9 | 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 | YRCLKAGENPDHGYTSFDSFAWAFLALFRL>M<TQDCWERLYQQTLRSAGKIY-MIFFMLVIF | 398 |
| SCN1A | YMCVKAGRNPNYGYTSFDTFSWAFLSLFRL>M<TQDFWENLYQLTLRAAGKTY-MIFFVLVIF | 408 |
| SCN2A | YICVKAGRNPNYGYTSFDTFSWAFLSLFRL>M<TQDFWENLYQLTLRAAGKTY-MIFFVLVIF | 410 |
| SCN3A | YICVKAGRNPNYGYTSFDTFSWAFLSLFRL>M<TQDYWENLYQLTLRAAGKTY-MIFFVLVIF | 409 |
| SCN4A | YECIKTGRNPNYGYTSYDTFSWAFLALFRL>M<TQDYWENLFQLTLRAAGKTY-MIFFVVIIF | 432 |
| SCN7A | YVCVKAGINPDQGFTNFDSFGWALFALFRL>M<AQDYPEVLYHQILYASGKVY-MIFFVVVSF | 379 |
| SCN8A | YQCMKAGRNPNYGYTSFDTFSWAFLALFRL>M<TQDYWENLYQLTLRAAGKTY-MIFFVLVIF | 396 |
| SCN9A | YTCVKIGRNPDYGYTSFDTFSWAFLALFRL>M<TQDYWENLYQQTLRAAGKTY-MIFFVVVIF | 387 |
| SCN10A | YICLKTSDNPDFNYTSFDSFAWAFLSLFRL>M<TQDSWERLYQQTLRTSGKIY-MIFFVLVIF | 382 |
| SCN11A | YECKHTKINPDYNYTNFDNFGWSFLAMFRL>M<TQDSWEKLYQQTLRTTGLYS-VFFFIVVIF | 385 |
| CACNA1A | TKCQPYWEGPNNGITQFDNILFAVLTVFQC>I<TMEGWTDLLYNSNDASGNTWNWLYFIPLII | 345 |
| CACNA1B | TECREYWPGPNFGITNFDNILFAILTVFQC>I<TMEGWTDILYNTNDAAGNTWNWLYFIPLII | 341 |
| CACNA1C | TVCKPGWDGPKHGITNFDNFAFAMLTVFQC>I<TMEGWTDVLYWVNDAVGRDWPWIYFVTLII | 390 |
| CACNA1D | TECRSGWVGPNGGITNFDNFAFAMLTVFQC>I<TMEGWTDVLYWVNDAIGWEWPWVYFVSLII | 391 |
| CACNA1E | YEC-KDWIGPNDGITQFDNILFAVLTVFQC>I<TMEGWTTVLYNTNDALGATWNWLYFIPLII | 336 |
| CACNA1F | TECRGRWPGPNGGITNFDNFFFAMLTVFQC>V<TMEGWTDVLYWMQDAMGYELPWVYFVSLVI | 357 |
| CACNA1G | TNCSAGEHNPFKGAINFDNIGYAWIAIFQV>I<TLEGWVDIMYFVMDAHSF-YNFIYFILLII | 380 |
| CACNA1H | NVCRSGDSNPHNGAINFDNIGYAWIAIFQV>I<TLEGWVDIMYYVMDAHSF-YNFIYFILLII | 404 |
| CACNA1I | NVCRTGSANPHKGAINFDNIGYAWIVIFQV>I<TLEGWVEIMYYVMDAHSF-YNFIYFILLII | 383 |
| CACNA1S | SECRGGWPGPNHGITHFDNFGFSMLTVYQC>I<TMEGWTDVLYWVNDAIGNEWPWIYFVTLIL | 319 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M369K | c.1106T>A | Inherited Arrhythmia | BrS | rs199473098 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943 | ||
| 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 | |||
| Inherited Arrhythmia | BrS | Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861 | |||