| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | R1596C | Cryptogenic focal epilepsy | High | 9 | 17347258, 23527921, 24328833, 26188943 |
| SCN1A | R1596L | Dravet syndrome | High | 9 | 18930999 |
| SCN1A | R1596H | Generalized epilepsy with febrile seizures plus ? | High | 9 | 21248271, 26188943 |
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 | SPEKINILAKINLLFVAIFTGECIVKLAAL>R<-HYYFTNSWNIFDFVVVILSIVGTVLSDII | 1612 |
| SCN1A | SEYVTTILSRINLVFIVLFTGECVLKLISL>R<-HYYFTIGWNIFDFVVVILSIVGMFLAELI | 1625 |
| SCN2A | SQEMTNILYWINLVFIVLFTGECVLKLISL>R<-YYYFTIGWNIFDFVVVILSIVGMFLAELI | 1615 |
| SCN3A | GKYMTLVLSRINLVFIVLFTGEFVLKLVSL>R<-HYYFTIGWNIFDFVVVILSIVGMFLAEMI | 1610 |
| SCN4A | SQLKVDILYNINMIFIIIFTGECVLKMLAL>R<-QYYFTVGWNIFDFVVVILSIVGLALSDLI | 1437 |
| SCN7A | SLQMSIALYWINSIFVMLYTMECILKLIAF>R<-CFYFTIAWNIFDFMVVIFSITGLCLPMTV | 1335 |
| SCN8A | SKQMENILYWINLVFVIFFTCECVLKMFAL>R<-HYYFTIGWNIFDFVVVILSIVGMFLADII | 1606 |
| SCN9A | SQHMTEVLYWINVVFIILFTGECVLKLISL>R<-HYYFTVGWNIFDFVVVIISIVGMFLADLI | 1588 |
| SCN10A | SEEKTKILGKINQFFVAVFTGECVMKMFAL>R<-QYYFTNGWNVFDFIVVVLSIASLIFSAIL | 1560 |
| SCN11A | PKAMKSILDHLNWVFVVIFTLECLIKIFAL>R<-QYYFTNGWNLFDCVVVLLSIVSTMISTLE | 1450 |
| CACNA1A | SVAYENALRVFNIVFTSLFSLECVLKVMAF>G<ILNYFRDAWNIFDFVTVLGSITDILVTEFG | 1651 |
| CACNA1B | PYEYELMLKCLNIVFTSMFSMECVLKIIAF>G<VLNYFRDAWNVFDFVTVLGSITDILVTEIA | 1557 |
| CACNA1C | SCLFKIAMNILNMLFTGLFTVEMILKLIAF>K<PKHYFCDAWNTFDALIVVGSIVDIAITEVN | 1304 |
| CACNA1D | SKMFNDAMDILNMVFTGVFTVEMVLKVIAF>K<PKGYFSDAWNTFDSLIVIGSIIDVALSEAD | 1310 |
| CACNA1E | PCTYELALKYLNIAFTMVFSLECVLKVIAF>G<FLNYFRDTWNIFDFITVIGSITEIILTDSK | 1563 |
| CACNA1F | TAPFNYAMDILNMVFTGLFTIEMVLKIIAF>K<PKHYFTDAWNTFDALIVVGSIVDIAVTEVN | 1275 |
| CACNA1G | PQILDEALKICNYIFTVIFVLESVFKLVAF>G<FRRFFQDRWNQLDLAIVLLSIMGITLEEIE | 1696 |
| CACNA1H | PKSLDEALKYCNYVFTIVFVFEAALKLVAF>G<FRRFFKDRWNQLDLAIVLLSLMGITLEEIE | 1702 |
| CACNA1I | PTSLETALKYCNYMFTTVFVLEAVLKLVAF>G<LRRFFKDRWNQLDLAIVLLSVMGITLEEIE | 1572 |
| CACNA1S | SEQMNHISDILNVAFTIIFTLEMILKLMAF>K<ARGYFGDPWNVFDFLIVIGSIIDVILSEID | 1203 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1583C | c.4747C>T | Inherited Arrhythmia | BrS | rs45514691 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | |||
| p.R1583H | c.4748G>A | Inherited Arrhythmia | BrS | rs199473621 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | |||