No paralogue variants have been mapped to residue 573 for SCN5A.
SCN5A | STAGESESHHTSLLVPWPL--RRT-SA--->Q<GQPSPGTSA----P--GHALHGKKNSTV-- | 595 |
SCN1A | STFEDNESRRDSLFVPRRHGERRN------>-<----SNLSQ----T--SRSSRMLAVFPAN- | 638 |
SCN2A | STFEDNDSRRDSLFVPHRHGERRH------>-<----SNVSQ----A--SRASRVLPILPMN- | 641 |
SCN3A | STFEDSESRRDSLFVPHRHGERRN------>-<----SNVSQ----A--SMSSRMVPGLPAN- | 641 |
SCN4A | ------------------------------>-<--------------------------PAH- | 502 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | STVEESEGRRDSLFIPIRARERRS------>S<YSGYSGYSQ----G--SRSSRIFPSLRRS- | 636 |
SCN9A | SIFGDNESRRGSLFVPHRPQERRS------>-<----SNISQ----A--SRSP---PMLPVN- | 615 |
SCN10A | VFPGDHESHRGSLLLGGGAGQQG------->-<----PLPRSPLPQP--SNP------D---- | 561 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | ------------------------------>-<------------------------------ | |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | VHSFYHADCHLEPVRCQAPP---PRSPSEA>S<G-RTV--GS----G--KVYPTVHTSPPPET | 601 |
CACNA1H | VHSIYHADCHIEGPQERARVAHAAATA-AA>S<L-R-LATGL----GTMN-YPTILPSGVGSG | 624 |
CACNA1I | GRELCPQHSPLDATPHTLVQPIPA------>-<------------------------------ | 544 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q573E | c.1717C>G | Inherited Arrhythmia | LQTS | rs199473127 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
Inherited Arrhythmia | LQTS | Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease. Circulation. 2012 126(17):2084-94. doi: 10.1161/CIRCULATIONAHA.112.1 23008441 |