No paralogue variants have been mapped to residue 475 for SCN5A.
| SCN5A | -------------RSSLEMSPLAPVNSHER>R<SKRRKR----MS-SGTE-ECGEDRLPKSDS | 499 |
| SCN1A | EPSAAGRL----SDSSSEASKLSSKSAKER>R<NRRKKRKQKEQS-GGEE-KDE-DEFQKSES | 525 |
| SCN2A | DFSGAGGIGVF-SESSSVASKLSSKSEKEL>K<NRRKKKKQKEQS-GEEE-KND--RVRKSES | 528 |
| SCN3A | DFSGIGGLGEL-LESSSEASKLSSKSAKEW>R<NRRKKRRQREHL-EGNN-KGERDSFPKSES | 528 |
| SCN4A | ------------------------------>-<-----------E-GGEA-DGD--------- | 499 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | EEEGEEGG-GS-PRSSSEISKLSSKSAKER>R<NRRKKRKQKELS-EGEE-KGDPEKVFKSES | 520 |
| SCN9A | RRSRIMGL----SESSSETSKLSSKSAKER>R<NRRKKKNQKKLS-SGEE-KGDAEKLSKSES | 505 |
| SCN10A | -------------LHSHNGSPLTSKNASER>R<HRIKPRV----S-EGST-ED--NKSPRSDP | 481 |
| SCN11A | -------------LTSLETSYFTPKKRKLF>G<NKKRKS----FF-LRES-GKD--QPPGSDS | 484 |
| 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 | --RLAQVSRA--AGVR-------------->-<--------VGLLSSPAP-LGGQETQPSSSC | 482 |
| CACNA1H | --RSLRLYARW-QSRW-------------->-<--------RK-KVDPSA-VQGQGPGHRQRR | 506 |
| CACNA1I | --RALGLYQAL-QSRR-------------->-<--------QA-L-GPEAPAPAK-PGPHAKE | 483 |
| CACNA1S | ------MDVEDFREG--------------->-<--------------------KL-------- | 386 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R475S | c.1425A>C | Putative Benign | rs199473116 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Putative 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.R475K | c.1424G>A | Putative Benign | SIFT: Polyphen: | ||