No paralogue variants have been mapped to residue 551 for SCN5A.
| SCN5A | -R-DLG-----SEA-------DFADDENST>A<GESESHHTSLLVPWPL--RRT-SA---QGQ | 575 |
| SCN1A | AK-DVG-----SEN-------DFADDEHST>F<EDNESRRDSLFVPRRHGERRN--------- | 619 |
| SCN2A | AK-DIG-----SEN-------DFADDEHST>F<EDNDSRRDSLFVPHRHGERRH--------- | 622 |
| SCN3A | AK-DVG-----SEN-------DFADDEHST>F<EDSESRRDSLFVPHRHGERRN--------- | 622 |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | FR-DPG-----SEN-------EFADDEHST>V<EESEGRRDSLFIPIRARERRS------SYS | 615 |
| SCN9A | GR-DIG-----SET-------EFADDEHSI>F<GDNESRRGSLFVPHRPQERRS--------- | 599 |
| SCN10A | GR-DIS-----LPE-------GVTDDG-VF>P<GDHESHRGSLLLGGGAGQQG---------- | 547 |
| SCN11A | ------------------------------>-<------------------------------ | |
| CACNA1A | -K---------SKT---------------->-<------------------------------ | 431 |
| CACNA1B | -K---------SRN---------------->-<------------------------------ | 427 |
| CACNA1C | -----T-----SET---------------->-<------------------------------ | 471 |
| CACNA1D | -----T-----SET---------------->-<------------------------------ | 471 |
| CACNA1E | -R---------SRT---------------->-<------------------------------ | 420 |
| CACNA1F | -NRRRGRLRWFSHS---------------->-<------------------------------ | 457 |
| CACNA1G | -P---------PS-TPALSGAPPGGAESVH>S<FYHADCHLEPVRCQAPP---PRSPSEASG- | 581 |
| CACNA1H | -A---------PPSPPSPGRGPPD-AESVH>S<IYHADCHIEGPQERARVAHAAATA-AASL- | 602 |
| CACNA1I | ------------A--------SPGNDHSGR>E<LCPQHSPLDATPHTLVQPIPA--------- | 544 |
| CACNA1S | -----G-----SDT---------------->-<------------------------------ | 395 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A551T | c.1651G>A | Inherited Arrhythmia | BrS | rs199473574 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | BrS | Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735 | ||
| Inherited Arrhythmia | BrS | Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome. J Biomed Sci. 2009 16:76. 19706159 | |||
| Inherited Arrhythmia | BrS | Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome. Sci Rep. 2014 4:3850. doi: 10.1038/srep03850. 24463578 | |||
| p.A551V | c.1652C>T | Putative Benign | rs201641342 | SIFT: tolerated Polyphen: possibly damaging | |