No paralogue variants have been mapped to residue 2172 for RYR2.
RYR2 | MIRGLGDIMNNKVFYQHPNLMRALGMHETV>M<EVMVNVLGGGESKEITFPKMVANCCRFLCY | 2202 |
RYR1 | MIQSIGNIMNNKVFYQHPNLMRALGMHETV>M<EVMVNVLGGGESKEIRFPKMVTSCCRFLCY | 2238 |
RYR3 | MINGLGDIMNNKVFYQHPNLMRVLGMHETV>M<EVMVNVLGT-EKSQIAFPKMVASCCRFLCY | 2099 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Met2172Lys | c.6515T>A | Unknown | SIFT: Polyphen: |