No paralogue variants have been mapped to residue 190 for RYR1.
RYR1 | EKVRVGDDIILVSVSSERYLHLSTASGELQ>V<DASFMQTLWNMNPICSR--CEEGFVTGGHV | 218 |
RYR2 | EKVRVGDDLILVSVSSERYLHLSYGNGSLH>V<DAAFQQTLWSVAPISSGSEAAQGYLIGGDV | 233 |
RYR3 | EKVRIGDDLILVSVSSERYLHLSVSNGNIQ>V<DASFMQTLWNVHPTCSGSSIEEGYLLGGHV | 223 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V190A | c.569T>C | Putative Benign | SIFT: Polyphen: |