| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN10A | N1328K | Brugada syndrome | High | 4 | 25842276 |
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 | GVNLFAGKFGRCINQTEGDL-P-LNYTIVN>N<KSQCESLNLTGE--LYWTKVKVNFDNVGAG | 1408 |
| SCN1A | GVNLFAGKFYHCINTTTGDR---FDIEDVN>N<HTDCLKLIERNET-ARWKNVKVNFDNVGFG | 1421 |
| SCN2A | GVNLFAGKFYHCINYTTGEM---FDVSVVN>N<YSECKALIESNQT-ARWKNVKVNFDNVGLG | 1411 |
| SCN3A | GVNLFAGKFYHCVNMTTGNM---FDISDVN>N<LSDCQALGK--Q--ARWKNVKVNFDNVGAG | 1406 |
| SCN4A | GVNLFAGKFYYCINTTTSER---FDISEVN>N<KSECESLMHTGQ--VRWLNVKVNYDNVGLG | 1233 |
| SCN7A | GVDLFAGRFYECIDPTSGER---FPSSEVM>N<KSRCESLLFNES--MLWENAKMNFDNVGNG | 1131 |
| SCN8A | GVNLFAGKYHYCFNETSEIR---FEIEDVN>N<KTECEKLMEGNNTEIRWKNVKINFDNVGAG | 1402 |
| SCN9A | GVNLFAGKFYECINTTDGSR---FPASQVP>N<RSECFALMNVSQN-VRWKNLKVNFDNVGLG | 1384 |
| SCN10A | GVNLFAGKFWRCINYTDGEF-SLVPLSIVN>N<KSDCKIQNSTGS--FFWVNVKVNFDNVAMG | 1356 |
| SCN11A | GVYFFSGKFGKCINGTDSVI----NYTIIT>N<KSQCESGN------FSWINQKVNFDNVGNA | 1246 |
| CACNA1A | AVQLFKGKFFHCTDESKEFEKDCRGKYLLY>E<KNEVK----AR--DREWKKYEFHYDNVLWA | 1449 |
| CACNA1B | AVQLFKGKFFYCTDESKELERDCRGQYLDY>E<KEEVE----AQ--PRQWKKYDFHYDNVLWA | 1355 |
| CACNA1C | GVQLFKGKLYTCSDSSKQTEAECKGNYITY>K<DGEVDHP-IIQ--PRSWENSKFDFDNVLAA | 1104 |
| CACNA1D | GVQLFKGKFYRCTDEAKSNPEECRGLFILY>K<DGDVDSP-VVR--ERIWQNSDFNFDNVLSA | 1110 |
| CACNA1E | AVQLFKGKFFYCTDSSKDTEKECIGNYVDH>E<KNKME----VK--GREWKRHEFHYDNIIWA | 1361 |
| CACNA1F | GVQLFKGKFYTCTDEAKHTPQECKGSFLVY>P<DGDVSRP-LVR--ERLWVNSDFNFDNVLSA | 1075 |
| CACNA1G | GVQLFKGKFFVCQGED---------TRNIT>N<KSDCA----EA--SYRWVRHKYNFDNLGQA | 1475 |
| CACNA1H | GVQLFKGKFYYCEGPD---------TRNIS>T<KAQCR----AA--HYRWVRRKYNFDNLGQA | 1493 |
| CACNA1I | GVQLFKGKFYHCLGVD---------TRNIT>N<RSDCM----AA--NYRWVHHKYNFDNLGQA | 1369 |
| CACNA1S | GVQLFKGKFFRCTDLSKMTEEECRGYYYVY>K<DGDPMQI-ELR--HREWVHSDFHFDNVLSA | 1003 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N1380K | c.4140C>G | Inherited Arrhythmia | BrS | rs199473238 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Gene symbol: SCN5A. Disease: Brugada syndrome. Hum Genet. 2008 123(5):542. 20960617 | ||
| p.N1380K | c.4140C>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients. Eur J Neurol. 2011 18(1):191-4. doi: 10.1111/j.1468-1331.2010.03077.x 20491895 | |||