No paralogue variants have been mapped to residue 461 for SCN5A.
| SCN5A | GVDTVS---------------------RSS>L<EMSPLAPVNSHERRSKRRKR----MS-SGT | 486 |
| SCN1A | ATATAS----EHSREPSAAGRL----SDSS>S<EASKLSSKSAKERRNRRKKRKQKEQS-GGE | 513 |
| SCN2A | AAAASA-----ESRDFSGAGGIGVF-SESS>S<VASKLSSKSEKELKNRRKKKKQKEQS-GEE | 517 |
| SCN3A | AAASAA------SRDFSGIGGLGEL-LESS>S<EASKLSSKSAKEWRNRRKKRRQREHL-EGN | 515 |
| SCN4A | KAAQAL------------------------>-<-------------------------E-GGE | 495 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | AMATSAGTVSEDAIEEEGEEGG-GS-PRSS>S<EISKLSSKSAKERRNRRKKRKQKELS-EGE | 507 |
| SCN9A | AAAAAE----YTSIRRSRIMGL----SESS>S<ETSKLSSKSAKERRNRRKKKNQKKLS-SGE | 492 |
| SCN10A | GIDTTS---------------------LHS>H<NGSPLTSKNASERRHRIKPRV----S-EGS | 470 |
| SCN11A | GIDRSS---------------------LTS>L<ETSYFTPKKRKLFGNKKRKS----FF-LRE | 473 |
| CACNA1A | -EE-----------------VILAEDETD->-<------------------------------ | 410 |
| CACNA1B | -EE-----------------VMLAEEDRN->-<------------------------------ | 406 |
| CACNA1C | -ED-----------------IDPENEDEG->-<------------------------------ | 455 |
| CACNA1D | -ED-----------------IDPENEEEG->-<------------------------------ | 456 |
| CACNA1E | -EE-----------------VMLAEENKN->-<------------------------------ | 401 |
| CACNA1F | -EE-----------------LDMEDPSAD->-<----------------------DNLG-SM- | 428 |
| CACNA1G | AAR-------------RLAQVSRA--AGVR>-<----------------------VGLLSSPA | 469 |
| CACNA1H | VKR-------------RSLRLYARW-QSRW>-<----------------------RK-KVDPS | 493 |
| CACNA1I | AKR-------------RALGLYQAL-QSRR>-<----------------------QA-L-GPE | 470 |
| CACNA1S | -EV-----------------MDVEDFREG->-<------------------------------ | 384 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L461F | c.1383G>T | Putative Benign | rs41312431 | SIFT: tolerated Polyphen: possibly damaging | |
| p.L461V | c.1381T>G | Conflict | rs41313697 | SIFT: tolerated Polyphen: benign | |
| Reports | Other Cardiac Phenotype | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | |||
| Other Cardiac Phenotype | High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11. 16712702 | ||||
| Other Cardiac Phenotype | Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782 | ||||
| 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 | ||||