No paralogue variants have been mapped to residue 1130 for SCN5A.
SCN5A | ---EASASQADWRQQWKAEPQAPG----CG>E<TPE------------------DSCSEGSTA | 1142 |
SCN1A | -----------------------------K>L<NES------------------SSSSEGSTV | 1157 |
SCN2A | -----------------------------K>L<N-A------------------TSSSEGSTV | 1146 |
SCN3A | -----------------------------K>L<N-A------------------TSSSEGSTV | 1144 |
SCN4A | -----------------------------P>L<Y-D------------------GNSSVCSTA | 968 |
SCN7A | -----------------------------K>I<K-Q------------------SSSSECSTV | 877 |
SCN8A | -----------------------------K>L<D-D------------------TSSSEGSTI | 1137 |
SCN9A | -----------------------------R>L<N-R------------------SSSSECSTV | 1119 |
SCN10A | -----------------------------G>V<D-D------------------TSSSEGSTV | 1089 |
SCN11A | ---SQRVQSVEIDMFSEDEPHLTIQDPRKK>S<D-V-----------------TSILSECSTI | 997 |
CACNA1A | AMATNPQNAASRRTPNNPGNPSNPGPP--K>T<P-ENSLIVTNPSGTQTNSAKTARKPDHTTV | 1169 |
CACNA1B | QPREPHCDLETSGTVTVGPMHTLPSTC--L>Q<K-VEEQPEDADNQRNVTRMGSQPPDPNTIV | 1079 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | EPDLSCITAN--------------TDK--A>T<T-ESTSVTVAIPDVDP-------LVDSTVV | 1086 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1130K | c.3388G>A | Putative Benign | rs369935119 | SIFT: tolerated Polyphen: benign |