No paralogue variants have been mapped to residue 481 for SCN5A.
| SCN5A | -------RSSLEMSPLAPVNSHERRSKRRK>R<----MS-SGTE-ECGEDRLPKSDSEDGPRA | 505 |
| SCN1A | RL----SDSSSEASKLSSKSAKERRNRRKK>R<KQKEQS-GGEE-KDE-DEFQKSESEDSIRR | 531 |
| SCN2A | GIGVF-SESSSVASKLSSKSEKELKNRRKK>K<KQKEQS-GEEE-KND--RVRKSESEDSIRR | 534 |
| SCN3A | GLGEL-LESSSEASKLSSKSAKEWRNRRKK>R<RQREHL-EGNN-KGERDSFPKSESEDSVKR | 534 |
| SCN4A | ------------------------------>-<-----E-GGEA-DGD--------------- | 499 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | GG-GS-PRSSSEISKLSSKSAKERRNRRKK>R<KQKELS-EGEE-KGDPEKVFKSESEDGMRR | 526 |
| SCN9A | GL----SESSSETSKLSSKSAKERRNRRKK>K<NQKKLS-SGEE-KGDAEKLSKSESEDSIRR | 511 |
| SCN10A | -------LHSHNGSPLTSKNASERRHRIKP>R<V----S-EGST-ED--NKSPRSDPYN-Q-- | 484 |
| SCN11A | -------LTSLETSYFTPKKRKLFGNKKRK>S<----FF-LRES-GKD--QPPGSDSDE---- | 486 |
| CACNA1A | VILAEDETD--------------------->-<--------------GEQRH----------- | 415 |
| CACNA1B | VMLAEEDRN--------------------->-<--------------AEEKS----------- | 411 |
| CACNA1C | IDPENEDEG--------------------->-<--------------MD-------------- | 457 |
| CACNA1D | IDPENEEEG--------------------->-<--------------GE-------------- | 458 |
| CACNA1E | VMLAEENKN--------------------->-<--------------AGTSA----------- | 406 |
| CACNA1F | LDMEDPSAD--------------------->-<--DNLG-SM-----AE-------------- | 430 |
| CACNA1G | VSRA--AGVR-------------------->-<--VGLLSSPAP-LGGQETQPSSSCSRSHRR | 488 |
| CACNA1H | LYARW-QSRW-------------------->-<--RK-KVDPSA-VQGQGPGHRQRRAG---R | 509 |
| CACNA1I | LYQAL-QSRR-------------------->-<--QA-L-GPEAPAPAK-PGPHAKEPR---H | 486 |
| CACNA1S | MDVEDFREG--------------------->-<--------------KL-------------- | 386 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R481W | c.1441C>T | Benign | rs144511230 | SIFT: deleterious Polyphen: benign | |
| Reports | Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Benign | 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.R481Q | c.1442G>A | Putative Benign | rs142804667 | SIFT: tolerated Polyphen: benign | |