No paralogue variants have been mapped to residue 1132 for SCN5A.
SCN5A | -EASASQADWRQQWKAEPQAPG----CGET>P<E------------------DSCSEGSTADM | 1144 |
SCN1A | ---------------------------KLN>E<S------------------SSSSEGSTVDI | 1159 |
SCN2A | ---------------------------KLN>-<A------------------TSSSEGSTVDI | 1148 |
SCN3A | ---------------------------KLN>-<A------------------TSSSEGSTVDV | 1146 |
SCN4A | ---------------------------PLY>-<D------------------GNSSVCSTADY | 970 |
SCN7A | ---------------------------KIK>-<Q------------------SSSSECSTVDI | 879 |
SCN8A | ---------------------------KLD>-<D------------------TSSSEGSTIDI | 1139 |
SCN9A | ---------------------------RLN>-<R------------------SSSSECSTVDN | 1121 |
SCN10A | ---------------------------GVD>-<D------------------TSSSEGSTVDC | 1091 |
SCN11A | -SQRVQSVEIDMFSEDEPHLTIQDPRKKSD>-<V-----------------TSILSECSTIDL | 999 |
CACNA1A | ATNPQNAASRRTPNNPGNPSNPGPP--KTP>-<ENSLIVTNPSGTQTNSAKTARKPDHTTVDI | 1171 |
CACNA1B | REPHCDLETSGTVTVGPMHTLPSTC--LQK>-<VEEQPEDADNQRNVTRMGSQPPDPNTIVHI | 1081 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | DLSCITAN--------------TDK--ATT>-<ESTSVTVAIPDVDP-------LVDSTVVHI | 1088 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1132S | c.3394C>T | Putative Benign | SIFT: Polyphen: |