| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | W280R | Myoclonic epilepsy of infancy | Medium | 6 | 12821740, 24168886 |
| SCN1A | W280C | Myoclonic epilepsy of infancy | Medium | 6 | 18639757 |
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 | MGNLRHKCVR-------------------->N<FTALN---G-TN-------------GS--- | 293 |
| SCN1A | MGNLRNKCIQ-WP-PTNASLEEH-SI-EKN>I<TVNYN---G-TL-------------IN--- | 306 |
| SCN2A | MGNLRNKCLQ-WP-PDNSSFEIN-ITSFFN>N<SLDGN---G-TT-------------FN--- | 308 |
| SCN3A | MGNLRNKCLQ-WP-PSDSAFETN-TTSYFN>G<TMDSN---G-TF-------------VN--- | 307 |
| SCN4A | MGNLRQKCVR-WP-PPFN--DTN-TTWYSN>D<TWYGN---D-TWYGNEMWYGNDSWYANDTW | 324 |
| SCN7A | MGNLKHKCFR-WP-QENE------------>-<----N---E-TLH-------------N--- | 281 |
| SCN8A | MGNLRNKCVV-WP----------------->-<-INFN---E-SY-------------LE--- | 294 |
| SCN9A | MGNLKHKCFR-NS----------------->-<-LENN---E-TL-------------ES--- | 288 |
| SCN10A | KGNLKNKCVK-N------------------>-<DMAVN---E-TTN----------------- | 288 |
| SCN11A | MGSLNLKCIS-R------------------>-<DCK-N---I-SN------------------ | 293 |
| CACNA1A | MGKFHTTCFE-E-GTD------------DI>-<----Q---G--------------------- | 266 |
| CACNA1B | MGKFHKACFP-N-STD------------A->-<----E---P--------------------- | 262 |
| CACNA1C | MGKMHKTCYNQEGIAD-------------V>-<---PA---E--------------------- | 310 |
| CACNA1D | IGKMHKTCFF-A-DSD-------------I>-<---VA---E--------------------- | 311 |
| CACNA1E | SGKLHRACFM-N-NSG------------IL>-<---EG---F--------------------- | 262 |
| CACNA1F | LGRMHKTCYF-L-GSD-------------M>-<---EA---E--------------------- | 277 |
| CACNA1G | AGLLRNRCFL-P-ENFSLPLSVD-LE-RYY>Q<T-ENE---DESPFICSQPRENG-------M | 279 |
| CACNA1H | AGLLRNRCFL-D-SAFVRNNNLTFLR-PYY>Q<T-EEG---EENPFICSSRRDNG-------M | 299 |
| CACNA1I | AGLLRNRCFL-E-ENFTIQGDVA-LP-PYY>Q<P-EED---DEMPFICSLSGDNG-------I | 277 |
| CACNA1S | KGKMHKTCYF-I-GTD-------------I>-<---VATVEN--------------------- | 239 |
| cons | > < |
There are currently no reported variants at residue 283 for SCN5A.