No paralogue variants have been mapped to residue 1079 for SCN5A.
SCN5A | -EENSLGTEEE-------------SSKQQE>S<QPVS-------------------------- | 1083 |
SCN1A | -DFSSESDLEE-------------SK---E>-<------------------------------ | 1143 |
SCN2A | -EFSSESDMEE-------------SK---E>-<------------------------------ | 1133 |
SCN3A | -EFSSESELEE-------------SK---E>-<------------------------------ | 1131 |
SCN4A | -ETDTFSEPED-------------SKKPPQ>-<------------------------------ | 955 |
SCN7A | -EIQSKSGDGG-------------SK---E>-<------------------------------ | 864 |
SCN8A | -DVSSESDPEG-------------SK---D>-<------------------------------ | 1124 |
SCN9A | -ELSSDSDSEY-------------SK---V>-<------------------------------ | 1106 |
SCN10A | -TWKDESVPQV-------------PA---E>-<------------------------------ | 1076 |
SCN11A | -NAQRITQPEP-------------EQQAYE>L<------------------------------ | 949 |
CACNA1A | ----------------RHGAPATYEGDARR>E<DKERRHRRRKENQGSGVPVSGPNLSTTRPI | 1051 |
CACNA1B | ----------------RARHKAQPAHEAVE>K<ETT--------------------------- | 998 |
CACNA1C | --TGEEDEEEP------------------->-<------------------------------ | 851 |
CACNA1D | EEEEEEEEDEP------------------->-<------------------------------ | 857 |
CACNA1E | --VLPHPELEVGKHVVLTEQEPEGSSEQAL>L<GNVQLD------------------------ | 1041 |
CACNA1F | EEEEEEEEEEE------------------->-<------------------------------ | 822 |
CACNA1G | --DGDDADDEG------------------->-<------------------------------ | 1228 |
CACNA1H | --DAAELDDDS------------------->-<------------------------------ | 1246 |
CACNA1I | --DRGEDEEEI------------------->-<------------------------------ | 1122 |
CACNA1S | --PGDDEEDEP------------------->-<------------------------------ | 750 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1079F | c.3236C>T | Inherited Arrhythmia | LQTS | rs199473188 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||
p.S1079Y | c.3236C>A | Inherited Arrhythmia | BrS | rs199473188 | SIFT: deleterious Polyphen: benign |
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 | ||
p.S1079T | c.3235T>A | Putative Benign | rs376183542 | SIFT: tolerated Polyphen: benign |