No paralogue variants have been mapped to residue 2253 for RYR2.
RYR2 | ENSSVGLASPAMRGSTPLDVAAASVMDNNE>L<ALALREPDLEKVVRYLAGCGLQSCQMLVSK | 2283 |
RYR1 | ENSGIG--L-GMQGSTPLDVAAASVIDNNE>L<ALALQEQDLEKVVSYLAGCGLQSCPMLVAK | 2316 |
RYR3 | ENSSVGLASPSMRGSTPLDVAASSVMDNNE>L<ALSLEEPDLEKVVTYLAGCGLQSCPMLLAK | 2180 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Leu2253Val | c.6757C>G | Unknown | SIFT: Polyphen: |