No paralogue variants have been mapped to residue 462 for SCN5A.
| SCN5A | VDTVS---------------------RSSL>E<MSPLAPVNSHERRSKRRKR----MS-SGTE | 487 |
| SCN1A | TATAS----EHSREPSAAGRL----SDSSS>E<ASKLSSKSAKERRNRRKKRKQKEQS-GGEE | 514 |
| SCN2A | AAASA-----ESRDFSGAGGIGVF-SESSS>V<ASKLSSKSEKELKNRRKKKKQKEQS-GEEE | 518 |
| SCN3A | AASAA------SRDFSGIGGLGEL-LESSS>E<ASKLSSKSAKEWRNRRKKRRQREHL-EGNN | 516 |
| SCN4A | AAQAL------------------------->-<------------------------E-GGEA | 496 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | MATSAGTVSEDAIEEEGEEGG-GS-PRSSS>E<ISKLSSKSAKERRNRRKKRKQKELS-EGEE | 508 |
| SCN9A | AAAAE----YTSIRRSRIMGL----SESSS>E<TSKLSSKSAKERRNRRKKKNQKKLS-SGEE | 493 |
| SCN10A | IDTTS---------------------LHSH>N<GSPLTSKNASERRHRIKPRV----S-EGST | 471 |
| SCN11A | IDRSS---------------------LTSL>E<TSYFTPKKRKLFGNKKRKS----FF-LRES | 474 |
| 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 | AR-------------RLAQVSRA--AGVR->-<---------------------VGLLSSPAP | 470 |
| CACNA1H | KR-------------RSLRLYARW-QSRW->-<---------------------RK-KVDPSA | 494 |
| CACNA1I | KR-------------RALGLYQAL-QSRR->-<---------------------QA-L-GPEA | 471 |
| CACNA1S | EV-----------------MDVEDFREG-->-<------------------------------ | 384 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E462A | c.1385A>C | Inherited Arrhythmia | LQTS | rs199473114 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.E462K | c.1384G>A | Inherited Arrhythmia | LQTS | rs199473572 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||