No paralogue variants have been mapped to residue 1121 for SCN5A.
SCN5A | -----EA---------EASASQADWRQQWK>A<EPQAPG----CGETPE-------------- | 1133 |
SCN1A | ------------------------------>-<-----------KLNES-------------- | 1148 |
SCN2A | ------------------------------>-<-----------KLN-A-------------- | 1137 |
SCN3A | ------------------------------>-<-----------KLN-A-------------- | 1135 |
SCN4A | ------------------------------>-<-----------PLY-D-------------- | 959 |
SCN7A | ------------------------------>-<-----------KIK-Q-------------- | 868 |
SCN8A | ------------------------------>-<-----------KLD-D-------------- | 1128 |
SCN9A | ------------------------------>-<-----------RLN-R-------------- | 1110 |
SCN10A | ------------------------------>-<-----------GVD-D-------------- | 1080 |
SCN11A | -----PT---------SQRVQSVEIDMFSE>D<EPHLTIQDPRKKSD-V-------------- | 987 |
CACNA1A | GNSTDPGPMLAIPAMATNPQNAASRRTPNN>P<GNPSNPGPP--KTP-ENSLIVTNPSGTQTN | 1156 |
CACNA1B | VEADKEKELR-NHQPREPHCDLETSGTVTV>G<PMHTLPSTC--LQK-VEEQPEDADNQRNVT | 1066 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | ----S------QSEPDLSCITAN------->-<------TDK--ATT-ESTSVTVAIPDVDP- | 1079 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1121V | c.3362C>T | Putative Benign | SIFT: Polyphen: |