No paralogue variants have been mapped to residue 250 for RYR2.
RYR2 | GSEAAQGYLIGGDVLRLLHGHMDECLTVPS>G<EHGEEQRRTVHYEGGAVSVHARSLWRLETL | 280 |
RYR1 | R--CEEGFVTGGHVLRLFHGHMDECLTISP>A<D-SDDQRRLVYYEGGAVCTHARSLWRLEPL | 264 |
RYR3 | GSSIEEGYLLGGHVVRLFHGH-DECLTIPS>T<DQNDSQHRRIFYEAGGAGTRARSLWRVEPL | 269 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G250V | c.749G>T | Putative Benign | rs376925177 | SIFT: tolerated Polyphen: benign |