No paralogue variants have been mapped to residue 506 for SCN5A.
| SCN5A | ----MS-SGTE-ECGEDRLPKSDSEDGPRA>M<--N-------------------HLSLTRGL | 515 |
| SCN1A | KQKEQS-GGEE-KDE-DEFQKSESEDSIRR>K<--GFRFSIEGNRLTYEKRYSSPHQSLLSIR | 560 |
| SCN2A | KQKEQS-GEEE-KND--RVRKSESEDSIRR>K<--GFRFSLEGSRLTYEKRFSSPHQSLLSIR | 563 |
| SCN3A | RQREHL-EGNN-KGERDSFPKSESEDSVKR>S<--SFLFSMDGNRLTSDKKFCSPHQSLLSIR | 563 |
| SCN4A | -----E-GGEA-DGD--------------->-<------------------------------ | 499 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | KQKELS-EGEE-KGDPEKVFKSESEDGMRR>K<--AFRLP-D-NRIG--RKFSIMNQSLLSIP | 551 |
| SCN9A | NQKKLS-SGEE-KGDAEKLSKSESEDSIRR>K<--SFHLGVEGHRRAHEKRLSTPNQSPLSIR | 540 |
| SCN10A | V----S-EGST-ED--NKSPRSDPYN-Q-->-<------------------------RRMSFL | 490 |
| SCN11A | ----FF-LRES-GKD--QPPGSDSDE---->-<------------------------------ | 486 |
| CACNA1A | --------------GEQRH----------->-<------------------------------ | 415 |
| CACNA1B | --------------AEEKS----------->-<------------------------------ | 411 |
| CACNA1C | --------------MD-------------->-<------------------------------ | 457 |
| CACNA1D | --------------GE-------------->-<------------------------------ | 458 |
| CACNA1E | --------------AGTSA----------->-<------------------------------ | 406 |
| CACNA1F | --DNLG-SM-----AE-------------->-<------------------------------ | 430 |
| CACNA1G | --VGLLSSPAP-LGGQETQPSSSCSRSHRR>L<--SV-HHLVH------HHHHHHHHYHL-GN | 509 |
| CACNA1H | --RK-KVDPSA-VQGQGPGHRQRRAG---R>H<TASVHHLVYH------HHHHHHHHYHF-SH | 533 |
| CACNA1I | --QA-L-GPEAPAPAK-PGPHAKEPR---H>Y<HGKTKGQGDE------GRHLGSRHCQT-LH | 510 |
| CACNA1S | --------------KL-------------->-<------------------------------ | 386 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M506K | c.1517T>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||
| p.M506I | c.1518G>A | Putative Benign | SIFT: Polyphen: | ||