No paralogue variants have been mapped to residue 2203 for RYR1.
RYR1 | QEENLMIQSIGNIMNNKVFYQHPNLMRALG>M<HETVMEVMVNVLGGGESKEIRFPKMVTSCC | 2233 |
RYR2 | EEEKLMIRGLGDIMNNKVFYQHPNLMRALG>M<HETVMEVMVNVLGGGESKEITFPKMVANCC | 2197 |
RYR3 | EEELLMINGLGDIMNNKVFYQHPNLMRVLG>M<HETVMEVMVNVLGT-EKSQIAFPKMVASCC | 2094 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2203V | c.6607A>G | Putative Benign | rs200203904 | SIFT: Polyphen: benign |