No paralogue variants have been mapped to residue 474 for SCN5A.
SCN5A | --------------RSSLEMSPLAPVNSHE>R<RSKRRKR----MS-SGTE-ECGEDRLPKSD | 498 |
SCN1A | REPSAAGRL----SDSSSEASKLSSKSAKE>R<RNRRKKRKQKEQS-GGEE-KDE-DEFQKSE | 524 |
SCN2A | RDFSGAGGIGVF-SESSSVASKLSSKSEKE>L<KNRRKKKKQKEQS-GEEE-KND--RVRKSE | 527 |
SCN3A | RDFSGIGGLGEL-LESSSEASKLSSKSAKE>W<RNRRKKRRQREHL-EGNN-KGERDSFPKSE | 527 |
SCN4A | ------------------------------>-<------------E-GGEA-DGD-------- | 499 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | IEEEGEEGG-GS-PRSSSEISKLSSKSAKE>R<RNRRKKRKQKELS-EGEE-KGDPEKVFKSE | 519 |
SCN9A | IRRSRIMGL----SESSSETSKLSSKSAKE>R<RNRRKKKNQKKLS-SGEE-KGDAEKLSKSE | 504 |
SCN10A | --------------LHSHNGSPLTSKNASE>R<RHRIKPRV----S-EGST-ED--NKSPRSD | 480 |
SCN11A | --------------LTSLETSYFTPKKRKL>F<GNKKRKS----FF-LRES-GKD--QPPGSD | 483 |
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 | ---RLAQVSRA--AGVR------------->-<---------VGLLSSPAP-LGGQETQPSSS | 481 |
CACNA1H | ---RSLRLYARW-QSRW------------->-<---------RK-KVDPSA-VQGQGPGHRQR | 505 |
CACNA1I | ---RALGLYQAL-QSRR------------->-<---------QA-L-GPEAPAPAK-PGPHAK | 482 |
CACNA1S | -------MDVEDFREG-------------->-<---------------------KL------- | 386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R474K | c.1421G>A | Putative Benign | SIFT: Polyphen: |