No paralogue variants have been mapped to residue 552 for SCN5A.
SCN5A | R-DLG-----SEA-------DFADDENSTA>G<ESESHHTSLLVPWPL--RRT-SA---QGQP | 576 |
SCN1A | K-DVG-----SEN-------DFADDEHSTF>E<DNESRRDSLFVPRRHGERRN---------- | 619 |
SCN2A | K-DIG-----SEN-------DFADDEHSTF>E<DNDSRRDSLFVPHRHGERRH---------- | 622 |
SCN3A | K-DVG-----SEN-------DFADDEHSTF>E<DSESRRDSLFVPHRHGERRN---------- | 622 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | R-DPG-----SEN-------EFADDEHSTV>E<ESEGRRDSLFIPIRARERRS------SYSG | 616 |
SCN9A | R-DIG-----SET-------EFADDEHSIF>G<DNESRRGSLFVPHRPQERRS---------- | 599 |
SCN10A | R-DIS-----LPE-------GVTDDG-VFP>G<DHESHRGSLLLGGGAGQQG----------- | 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-TPALSGAPPGGAESVHS>F<YHADCHLEPVRCQAPP---PRSPSEASG-R | 582 |
CACNA1H | A---------PPSPPSPGRGPPD-AESVHS>I<YHADCHIEGPQERARVAHAAATA-AASL-R | 603 |
CACNA1I | -----------A--------SPGNDHSGRE>L<CPQHSPLDATPHTLVQPIPA---------- | 544 |
CACNA1S | ----G-----SDT----------------->-<------------------------------ | 395 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G552R | c.1654G>C | Putative Benign | rs3918389 | SIFT: deleterious Polyphen: probably damaging | |
p.G552R | c.1654G>A | Inherited Arrhythmia | BrS | rs3918389 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||
Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 | |||
p.G552W | c.1654G>T | Putative Benign | rs3918389 | SIFT: deleterious Polyphen: probably damaging | |
p.G552A | c.1655G>C | Unknown | SIFT: Polyphen: | ||
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |