No paralogue variants have been mapped to residue 1220 for RYR1.
RYR1 | VCSLGPGQVGHLNLGQDVSSLRFFAICGLQ>E<GFEPFAINMQRPVTTWFSKGLPQFEPVPLE | 1250 |
RYR2 | VCSLGVAQVGRMNFGKDVSTLKYFTICGLQ>E<GYEPFAVNTNRDITMWLSKRLPQFLQVPSN | 1264 |
RYR3 | ICCLGLSQIGRMNLGTDASTFKFYTMCGLQ>E<GFEPFAVNMNRDVAMWFSKRLPTFVNVPKD | 1250 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1220K | c.3658G>A | Putative Benign | SIFT: Polyphen: |