No paralogue variants have been mapped to residue 2289 for RYR1.
RYR1 | GIG--L-GMQGSTPLDVAAASVIDNNELAL>A<LQEQDLEKVVSYLAGCGLQSCPMLVAKGYP | 2319 |
RYR2 | SVGLASPAMRGSTPLDVAAASVMDNNELAL>A<LREPDLEKVVRYLAGCGLQSCQMLVSKGYP | 2286 |
RYR3 | SVGLASPSMRGSTPLDVAASSVMDNNELAL>S<LEEPDLEKVVTYLAGCGLQSCPMLLAKGYP | 2183 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2289E | c.6866C>A | Putative Benign | SIFT: Polyphen: |