No paralogue variants have been mapped to residue 238 for RYR1.
RYR1 | EEGFVTGGHVLRLFHGHMDECLTISPAD-S>D<DQRRLVYYEGGAVCTHARSLWRLEPLRISW | 268 |
RYR2 | AQGYLIGGDVLRLLHGHMDECLTVPSGEHG>E<EQRRTVHYEGGAVSVHARSLWRLETLRVAW | 284 |
RYR3 | EEGYLLGGHVVRLFHGH-DECLTIPSTDQN>D<SQHRRIFYEAGGAGTRARSLWRVEPLRISW | 273 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D238N | c.712G>A | Putative Benign | SIFT: Polyphen: |