No paralogue variants have been mapped to residue 750 for RYR1.
RYR1 | LWTGHVARPVTSPGQHLLAPEDVISCCLDL>S<VPSISFRINGCPVQGVFESFNLDGLFFPVV | 780 |
RYR2 | LWSGCIARTVSSPNQHLLRTDDVISCCLDL>S<APSISFRINGQPVQGMFENFNIDGLFFPVV | 792 |
RYR3 | LWSGRIPRAVASINQHLLRSDDVVSCCLDL>G<VPSISFRINGQPVQGMFENFNTDGLFFPVM | 779 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S750G | c.2248A>G | Putative Benign | rs111408211 | SIFT: Polyphen: probably damaging |