No paralogue variants have been mapped to residue 480 for SCN5A.
| SCN5A | --------RSSLEMSPLAPVNSHERRSKRR>K<R----MS-SGTE-ECGEDRLPKSDSEDGPR | 504 |
| SCN1A | GRL----SDSSSEASKLSSKSAKERRNRRK>K<RKQKEQS-GGEE-KDE-DEFQKSESEDSIR | 530 |
| SCN2A | GGIGVF-SESSSVASKLSSKSEKELKNRRK>K<KKQKEQS-GEEE-KND--RVRKSESEDSIR | 533 |
| SCN3A | GGLGEL-LESSSEASKLSSKSAKEWRNRRK>K<RRQREHL-EGNN-KGERDSFPKSESEDSVK | 533 |
| SCN4A | ------------------------------>-<------E-GGEA-DGD-------------- | 499 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | EGG-GS-PRSSSEISKLSSKSAKERRNRRK>K<RKQKELS-EGEE-KGDPEKVFKSESEDGMR | 525 |
| SCN9A | MGL----SESSSETSKLSSKSAKERRNRRK>K<KNQKKLS-SGEE-KGDAEKLSKSESEDSIR | 510 |
| SCN10A | --------LHSHNGSPLTSKNASERRHRIK>P<RV----S-EGST-ED--NKSPRSDPYN-Q- | 484 |
| SCN11A | --------LTSLETSYFTPKKRKLFGNKKR>K<S----FF-LRES-GKD--QPPGSDSDE--- | 486 |
| 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 | QVSRA--AGVR------------------->-<---VGLLSSPAP-LGGQETQPSSSCSRSHR | 487 |
| CACNA1H | RLYARW-QSRW------------------->-<---RK-KVDPSA-VQGQGPGHRQRRAG--- | 508 |
| CACNA1I | GLYQAL-QSRR------------------->-<---QA-L-GPEAPAPAK-PGPHAKEPR--- | 485 |
| CACNA1S | -MDVEDFREG-------------------->-<---------------KL------------- | 386 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K480N | c.1440A>C | Putative Benign | SIFT: Polyphen: |