No paralogue variants have been mapped to residue 533 for SCN5A.
SCN5A | RGLSRTSMKPRSSRG--SIF------T--F>R<R-----R-DLG-----SEA-------DFAD | 545 |
SCN1A | SIRGSLFSPRRNSRT--SLF------S--F>R<G---RAK-DVG-----SEN-------DFAD | 592 |
SCN2A | SIRGSLFSPRRNSRA--SLF------S--F>R<G---RAK-DIG-----SEN-------DFAD | 595 |
SCN3A | SIRGSLFSPRRNSKT--SIF------S--F>R<G---RAK-DVG-----SEN-------DFAD | 595 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | SIPGSPFLSRHNSKS--SIF------S--F>R<GPG-RFR-DPG-----SEN-------EFAD | 585 |
SCN9A | SIRGSLFSARRSSRT--SLF------S--F>K<G---RGR-DIG-----SET-------EFAD | 572 |
SCN10A | SFLGLASGKRRASHG--SVF------H--F>R<S---PGR-DIS-----LPE-------GVTD | 522 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------PFDG-ALR------R--T>T<I---K-K---------SKT----------- | 431 |
CACNA1B | ------------PLDA-VLK------R--A>A<T---K-K---------SRN----------- | 427 |
CACNA1C | ---------------EEKPR------N--M>S<M---P-----T-----SET----------- | 471 |
CACNA1D | ---------------E-GKR------N--T>S<M---P-----T-----SET----------- | 471 |
CACNA1E | ------------L--E-VLR------R--A>T<I---K-R---------SRT----------- | 420 |
CACNA1F | ---------------E-G-RAGHRPQL--A>E<L---T-NRRRGRLRWFSHS----------- | 457 |
CACNA1G | -GNGTLRAPRASPEIQ-DRD------ANGS>R<RLMLP-P---------PS-TPALSGAPPGG | 549 |
CACNA1H | -SHGSPRRPGPEPGAC-DTR------LVR->-<---AG-A---------PPSPPSPGRGPPD- | 568 |
CACNA1I | -LHGP------------------------->-<-----------------A--------SPGN | 517 |
CACNA1S | --------------------------S--L>D<E---G-----G-----SDT----------- | 395 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R533H | c.1598G>A | Putative Benign | rs146848219 | SIFT: deleterious Polyphen: probably damaging | |
p.R533C | c.1597C>T | Putative Benign | SIFT: Polyphen: | ||
p.R533S | c.1597C>A | Putative Benign | SIFT: Polyphen: |