No paralogue variants have been mapped to residue 192 for RYR1.
RYR1 | VRVGDDIILVSVSSERYLHLSTASGELQVD>A<SFMQTLWNMNPICSR--CEEGFVTGGHVLR | 220 |
RYR2 | VRVGDDLILVSVSSERYLHLSYGNGSLHVD>A<AFQQTLWSVAPISSGSEAAQGYLIGGDVLR | 235 |
RYR3 | VRIGDDLILVSVSSERYLHLSVSNGNIQVD>A<SFMQTLWNVHPTCSGSSIEEGYLLGGHVVR | 225 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A192S | c.574G>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |