No paralogue variants have been mapped to residue 1219 for RYR2.
RYR2 | ELAFKDFDVGDGFIPVCSLGVAQVGRMNFG>K<DVSTLKYFTICGLQEGYEPFAVNTNRDITM | 1249 |
RYR1 | ETAFREIEIGDGFLPVCSLGPGQVGHLNLG>Q<DVSSLRFFAICGLQEGFEPFAINMQRPVTT | 1235 |
RYR3 | ELAFADYEIENGFVPICCLGLSQIGRMNLG>T<DASTFKFYTMCGLQEGFEPFAVNMNRDVAM | 1235 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Lys1219Thr | c.3656A>C | Unknown | SIFT: Polyphen: |