No paralogue variants have been mapped to residue 208 for RYR2.
RYR2 | GDDLILVSVSSERYLHLSYGNGSLHVDAAF>Q<QTLWSVAPISSGSEAAQGYLIGGDVLRLLH | 238 |
RYR1 | GDDIILVSVSSERYLHLSTASGELQVDASF>M<QTLWNMNPICSR--CEEGFVTGGHVLRLFH | 223 |
RYR3 | GDDLILVSVSSERYLHLSVSNGNIQVDASF>M<QTLWNVHPTCSGSSIEEGYLLGGHVVRLFH | 228 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q208R | c.623A>G | Putative Benign | SIFT: Polyphen: |