No paralogue variants have been mapped to residue 1220 for RYR2.
RYR2 | LAFKDFDVGDGFIPVCSLGVAQVGRMNFGK>D<VSTLKYFTICGLQEGYEPFAVNTNRDITMW | 1250 |
RYR1 | TAFREIEIGDGFLPVCSLGPGQVGHLNLGQ>D<VSSLRFFAICGLQEGFEPFAINMQRPVTTW | 1236 |
RYR3 | LAFADYEIENGFVPICCLGLSQIGRMNLGT>D<ASTFKFYTMCGLQEGFEPFAVNMNRDVAMW | 1236 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1220Y | c.3658G>T | Putative Benign | SIFT: Polyphen: possibly damaging |