No paralogue variants have been mapped to residue 199 for RYR1.
RYR1 | ILVSVSSERYLHLSTASGELQVDASFMQTL>W<NMNPICSR--CEEGFVTGGHVLRLFHGHMD | 227 |
RYR2 | ILVSVSSERYLHLSYGNGSLHVDAAFQQTL>W<SVAPISSGSEAAQGYLIGGDVLRLLHGHMD | 242 |
RYR3 | ILVSVSSERYLHLSVSNGNIQVDASFMQTL>W<NVHPTCSGSSIEEGYLLGGHVVRLFHGH-D | 231 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W199R | c.595T>C | Putative Benign | SIFT: Polyphen: probably damaging |