No paralogue variants have been mapped to residue 458 for SCN5A.
SCN5A | TIRGVDTVS--------------------->R<SSLEMSPLAPVNSHERRSKRRKR----MS- | 483 |
SCN1A | QQAATATAS----EHSREPSAAGRL----S>D<SSSEASKLSSKSAKERRNRRKKRKQKEQS- | 510 |
SCN2A | QAAAAAASA-----ESRDFSGAGGIGVF-S>E<SSSVASKLSSKSEKELKNRRKKKKQKEQS- | 514 |
SCN3A | QAVAAASAA------SRDFSGIGGLGEL-L>E<SSSEASKLSSKSAKEWRNRRKKRRQREHL- | 512 |
SCN4A | EKAKAAQAL--------------------->-<----------------------------E- | 492 |
SCN7A | EAK--------------------------->-<------------------------------ | 432 |
SCN8A | QAAAMATSAGTVSEDAIEEEGEEGG-GS-P>R<SSSEISKLSSKSAKERRNRRKKRKQKELS- | 504 |
SCN9A | EAIAAAAAE----YTSIRRSRIMGL----S>E<SSSETSKLSSKSAKERRNRRKKKNQKKLS- | 489 |
SCN10A | AALGIDTTS--------------------->L<HSHNGSPLTSKNASERRHRIKPRV----S- | 467 |
SCN11A | VAMGIDRSS--------------------->L<TSLETSYFTPKKRKLFGNKKRKS----FF- | 470 |
CACNA1A | SKA-EE-----------------VILAEDE>T<D----------------------------- | 410 |
CACNA1B | FKA-EE-----------------VMLAEED>R<N----------------------------- | 406 |
CACNA1C | TQA-ED-----------------IDPENED>E<G----------------------------- | 455 |
CACNA1D | TQA-ED-----------------IDPENEE>E<G----------------------------- | 456 |
CACNA1E | DKA-EE-----------------VMLAEEN>K<N----------------------------- | 401 |
CACNA1F | TQA-EE-----------------LDMEDPS>A<D------------------------DNLG- | 426 |
CACNA1G | LRKAAR-------------RLAQVSRA--A>G<VR-----------------------VGLLS | 466 |
CACNA1H | FRKVKR-------------RSLRLYARW-Q>S<RW-----------------------RK-KV | 490 |
CACNA1I | LRKAKR-------------RALGLYQAL-Q>S<RR-----------------------QA-L- | 467 |
CACNA1S | TQG-EV-----------------MDVEDFR>E<G----------------------------- | 384 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R458H | c.1373G>A | Putative Benign | rs373692157 | SIFT: tolerated Polyphen: benign | |
p.R458C | c.1372C>T | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome. Heart Rhythm. 2015 12(6):1241-9. doi: 10.1016/j.hrthm.2015.03.013. 25757662 |