No paralogue variants have been mapped to residue 2200 for RYR1.
| RYR1 | MGPQEENLMIQSIGNIMNNKVFYQHPNLMR>A<LGMHETVMEVMVNVLGGGESKEIRFPKMVT | 2230 |
| RYR2 | MGKEEEKLMIRGLGDIMNNKVFYQHPNLMR>A<LGMHETVMEVMVNVLGGGESKEITFPKMVA | 2194 |
| RYR3 | MGKEEELLMINGLGDIMNNKVFYQHPNLMR>V<LGMHETVMEVMVNVLGT-EKSQIAFPKMVA | 2091 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A2200V | c.6599C>T | Other Myopathy | rs193922791 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587 | |||
| p.A2200T | c.6598G>A | Putative Benign | SIFT: Polyphen: | ||
| p.A2200E | c.6599C>A | Putative Benign | SIFT: Polyphen: | ||