No paralogue variants have been mapped to residue 1082 for SCN5A.
SCN5A | NSLGTEEE-------------SSKQQESQP>V<S----------------------------- | 1083 |
SCN1A | SSESDLEE-------------SK---E--->-<------------------------------ | 1143 |
SCN2A | SSESDMEE-------------SK---E--->-<------------------------------ | 1133 |
SCN3A | SSESELEE-------------SK---E--->-<------------------------------ | 1131 |
SCN4A | DTFSEPED-------------SKKPPQ--->-<------------------------------ | 955 |
SCN7A | QSKSGDGG-------------SK---E--->-<------------------------------ | 864 |
SCN8A | SSESDPEG-------------SK---D--->-<------------------------------ | 1124 |
SCN9A | SSDSDSEY-------------SK---V--->-<------------------------------ | 1106 |
SCN10A | KDESVPQV-------------PA---E--->-<------------------------------ | 1076 |
SCN11A | QRITQPEP-------------EQQAYEL-->-<------------------------------ | 949 |
CACNA1A | -------------RHGAPATYEGDARREDK>E<RRHRRRKENQGSGVPVSGPNLSTTRPIQQD | 1054 |
CACNA1B | -------------RARHKAQPAHEAVEKET>T<------------------------------ | 998 |
CACNA1C | GEEDEEEP---------------------->-<------------------------------ | 851 |
CACNA1D | EEEEEDEP---------------------->-<------------------------------ | 857 |
CACNA1E | LPHPELEVGKHVVLTEQEPEGSSEQALLGN>V<QLD--------------------------- | 1041 |
CACNA1F | EEEEEEEE---------------------->-<------------------------------ | 822 |
CACNA1G | GDDADDEG---------------------->-<------------------------------ | 1228 |
CACNA1H | AAELDDDS---------------------->-<------------------------------ | 1246 |
CACNA1I | RGEDEEEI---------------------->-<------------------------------ | 1122 |
CACNA1S | GDDEEDEP---------------------->-<------------------------------ | 750 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1082A | c.3245T>C | Putative Benign | rs199473189 | SIFT: tolerated Polyphen: benign | |
Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Putative Benign | 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 |