No paralogue variants have been mapped to residue 168 for RYR1.
RYR1 | EDATGEACWWTMHPASKQRSEGEKVRVGDD>I<ILVSVSSERYLHLSTASGELQVDASFMQTL | 198 |
RYR2 | EDTTGEACWWTIHPASKQRSEGEKVRVGDD>L<ILVSVSSERYLHLSYGNGSLHVDAAFQQTL | 211 |
RYR3 | EHATGEACWWTIHPASKQRSEGEKVRIGDD>L<ILVSVSSERYLHLSVSNGNIQVDASFMQTL | 201 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I168V | c.502A>G | Putative Benign | rs201432446 | SIFT: Polyphen: benign |