No paralogue variants have been mapped to residue 1074 for SCN5A.
SCN5A | ------EENSLGTEEE-------------S>S<KQQESQPVS--------------------- | 1083 |
SCN1A | ------DFSSESDLEE-------------S>K<---E-------------------------- | 1143 |
SCN2A | ------EFSSESDMEE-------------S>K<---E-------------------------- | 1133 |
SCN3A | ------EFSSESELEE-------------S>K<---E-------------------------- | 1131 |
SCN4A | ------ETDTFSEPED-------------S>K<KPPQ-------------------------- | 955 |
SCN7A | ------EIQSKSGDGG-------------S>K<---E-------------------------- | 864 |
SCN8A | ------DVSSESDPEG-------------S>K<---D-------------------------- | 1124 |
SCN9A | ------ELSSDSDSEY-------------S>K<---V-------------------------- | 1106 |
SCN10A | E-----TWKDESVPQV-------------P>A<---E-------------------------- | 1076 |
SCN11A | ------NAQRITQPEP-------------E>Q<QAYEL------------------------- | 949 |
CACNA1A | ---------------------RHGAPATYE>G<DARREDKERRHRRRKENQGSGVPVSGPNLS | 1046 |
CACNA1B | ---------------------RARHKAQPA>H<EAVEKETT---------------------- | 998 |
CACNA1C | ET-----TGEEDEEEP-------------->-<------------------------------ | 851 |
CACNA1D | DVPVGEEEEEEEEDEP-------------->-<------------------------------ | 857 |
CACNA1E | PL-----VLPHPELEVGKHVVLTEQEPEGS>S<EQALLGNVQLD------------------- | 1041 |
CACNA1F | DMEEEEEEEEEEEEEE-------------->-<------------------------------ | 822 |
CACNA1G | PL-----DGDDADDEG-------------->-<------------------------------ | 1228 |
CACNA1H | RE-----DAAELDDDS-------------->-<------------------------------ | 1246 |
CACNA1I | RG-----DRGEDEEEI-------------->-<------------------------------ | 1122 |
CACNA1S | DF-----PGDDEEDEP-------------->-<------------------------------ | 750 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1074R | c.3222C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Mutational analysis of SCN5A gene in long QT syndrome. Meta Gene. 2015 6:26-35. doi: 10.1016/j.mgene.2015.07.010. eCollec 26401487 |