| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | V220D | Malignant migrating partial seizures in infancy | High | 9 | 26544041 |
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 | IKLG-----------------NLSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLADV | 253 |
| SCN1A | VDLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV | 250 |
| SCN2A | VDLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV | 251 |
| SCN3A | VDLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV | 250 |
| SCN4A | VDLG-----------------NISALRTFR>V<LRALKTITVIPGLKTIVGALIQSVKKLSDV | 253 |
| SCN7A | SPLD-----------------FIPTLQTAR>T<LRILKIIPLNQGLKSLVGVLIHCLKQLIGV | 240 |
| SCN8A | VNLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV | 254 |
| SCN9A | VNLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV | 248 |
| SCN10A | IDLR-----------------GISGLRTFR>V<LRALKTVSVIPGLKVIVGALIHSVKKLADV | 249 |
| SCN11A | PGIT----------------IKLLPLRTFR>V<FRALKAISVVSRLKVIVGALLRSVKKLVNV | 256 |
| CACNA1A | GTEF-----------------DLRTLRAVR>V<LRPLKLVSGIPSLQVVLKSIMKAMIPLLQI | 229 |
| CACNA1B | GTDF-----------------DLRTLRAVR>V<LRPLKLVSGIPSLQVVLKSIMKAMVPLLQI | 226 |
| CACNA1C | LEQATKA-DGANALGGKGAGFDVKALRAFR>V<LRPLRLVSGVPSLQVVLNSIIKAMVPLLHI | 271 |
| CACNA1D | LEQLTKETEGGNHSSGKSGGFDVKALRAFR>V<LRPLRLVSGVPSLQVVLNSIIKAMVPLLHI | 274 |
| CACNA1E | GTHFN-------------THVDLRTLRAVR>V<LRPLKLVSGIPSLQIVLKSIMKAMVPLLQI | 224 |
| CACNA1F | LEQGPGRPGDAPHTGGKPGGFDVKALRAFR>V<LRPLRLVSGVPSLHIVLNSIMKALVPLLHI | 240 |
| CACNA1G | LDLQ---------------NVSFSAVRTVR>V<LRPLRAINRVPSMRILVTLLLDTLPMLGNV | 214 |
| CACNA1H | LDGH---------------NVSLSAIRTVR>V<LRPLRAINRVPSMRILVTLLLDTLPMLGNV | 233 |
| CACNA1I | LDLQ---------------NINLSAIRTVR>V<LRPLKAINRVPSMRILVNLLLDTLPMLGNV | 212 |
| CACNA1S | LEQVNVIQSHTAPMSSKGAGLDVKALRAFR>V<LRPLRLVSGVPSLQVVLNSIFKAMLPLFHI | 199 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V223L | c.667G>C | Inherited Arrhythmia | BrS | rs199473560 | 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 | ||
| p.V223G | c.668T>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2016 79(4):522-34. doi: 10.1002/ana.24596. 26704558 | |||