No paralogue variants have been mapped to residue 1364 for RYR1.
RYR1 | LRRSAGGWSEAENGKEGTAKEGAPGGTPQA>G<GEAQPARAENEKDATTEKNKKRGFLFKAKK | 1394 |
RYR2 | LMKTAHGHLVPDRVDKDKEATKPEFNNHK->-<------------DYAQEKP-SR--LKQRFL | 1389 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1364W | c.4090G>T | Putative Benign | rs35869497 | SIFT: Polyphen: probably damaging |