No paralogue variants have been mapped to residue 505 for SCN5A.
| SCN5A | R----MS-SGTE-ECGEDRLPKSDSEDGPR>A<M--N-------------------HLSLTRG | 514 |
| SCN1A | RKQKEQS-GGEE-KDE-DEFQKSESEDSIR>R<K--GFRFSIEGNRLTYEKRYSSPHQSLLSI | 559 |
| SCN2A | KKQKEQS-GEEE-KND--RVRKSESEDSIR>R<K--GFRFSLEGSRLTYEKRFSSPHQSLLSI | 562 |
| SCN3A | RRQREHL-EGNN-KGERDSFPKSESEDSVK>R<S--SFLFSMDGNRLTSDKKFCSPHQSLLSI | 562 |
| SCN4A | ------E-GGEA-DGD-------------->-<------------------------------ | 499 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | RKQKELS-EGEE-KGDPEKVFKSESEDGMR>R<K--AFRLP-D-NRIG--RKFSIMNQSLLSI | 550 |
| SCN9A | KNQKKLS-SGEE-KGDAEKLSKSESEDSIR>R<K--SFHLGVEGHRRAHEKRLSTPNQSPLSI | 539 |
| SCN10A | RV----S-EGST-ED--NKSPRSDPYN-Q->-<-------------------------RRMSF | 489 |
| SCN11A | S----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-LGGQETQPSSSCSRSHR>R<L--SV-HHLVH------HHHHHHHHYHL-G | 508 |
| CACNA1H | ---RK-KVDPSA-VQGQGPGHRQRRAG--->R<HTASVHHLVYH------HHHHHHHHYHF-S | 532 |
| CACNA1I | ---QA-L-GPEAPAPAK-PGPHAKEPR--->H<YHGKTKGQGDE------GRHLGSRHCQT-L | 509 |
| CACNA1S | ---------------KL------------->-<------------------------------ | 386 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A505E | c.1514C>A | Putative Benign | SIFT: Polyphen: |