No paralogue variants have been mapped to residue 191 for RYR1.
RYR1 | KVRVGDDIILVSVSSERYLHLSTASGELQV>D<ASFMQTLWNMNPICSR--CEEGFVTGGHVL | 219 |
RYR2 | KVRVGDDLILVSVSSERYLHLSYGNGSLHV>D<AAFQQTLWSVAPISSGSEAAQGYLIGGDVL | 234 |
RYR3 | KVRIGDDLILVSVSSERYLHLSVSNGNIQV>D<ASFMQTLWNVHPTCSGSSIEEGYLLGGHVV | 224 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D191Y | c.571G>T | Putative Benign | SIFT: Polyphen: |