No paralogue variants have been mapped to residue 1227 for RYR1.
RYR1 | QVGHLNLGQDVSSLRFFAICGLQEGFEPFA>I<NMQRPVTTWFSKGLPQFEPVPLEHPHYEVS | 1257 |
RYR2 | QVGRMNFGKDVSTLKYFTICGLQEGYEPFA>V<NTNRDITMWLSKRLPQFLQVPSNHEHIEVT | 1271 |
RYR3 | QIGRMNLGTDASTFKFYTMCGLQEGFEPFA>V<NMNRDVAMWFSKRLPTFVNVPKDHPHIEVM | 1257 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1227V | c.3679A>G | Putative Benign | SIFT: Polyphen: |