No paralogue variants have been mapped to residue 504 for SCN5A.
SCN5A | KR----MS-SGTE-ECGEDRLPKSDSEDGP>R<AM--N-------------------HLSLTR | 513 |
SCN1A | KRKQKEQS-GGEE-KDE-DEFQKSESEDSI>R<RK--GFRFSIEGNRLTYEKRYSSPHQSLLS | 558 |
SCN2A | KKKQKEQS-GEEE-KND--RVRKSESEDSI>R<RK--GFRFSLEGSRLTYEKRFSSPHQSLLS | 561 |
SCN3A | KRRQREHL-EGNN-KGERDSFPKSESEDSV>K<RS--SFLFSMDGNRLTSDKKFCSPHQSLLS | 561 |
SCN4A | -------E-GGEA-DGD------------->-<------------------------------ | 499 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | KRKQKELS-EGEE-KGDPEKVFKSESEDGM>R<RK--AFRLP-D-NRIG--RKFSIMNQSLLS | 549 |
SCN9A | KKNQKKLS-SGEE-KGDAEKLSKSESEDSI>R<RK--SFHLGVEGHRRAHEKRLSTPNQSPLS | 538 |
SCN10A | PRV----S-EGST-ED--NKSPRSDPYN-Q>-<--------------------------RRMS | 488 |
SCN11A | KS----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-LGGQETQPSSSCSRSH>R<RL--SV-HHLVH------HHHHHHHHYHL- | 507 |
CACNA1H | ----RK-KVDPSA-VQGQGPGHRQRRAG-->-<RHTASVHHLVYH------HHHHHHHHYHF- | 531 |
CACNA1I | ----QA-L-GPEAPAPAK-PGPHAKEPR-->-<HYHGKTKGQGDE------GRHLGSRHCQT- | 508 |
CACNA1S | ----------------KL------------>-<------------------------------ | 386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R504T | c.1511G>C | Putative Benign | SIFT: Polyphen: |