No paralogue variants have been mapped to residue 199 for RYR2.
RYR2 | RSEGEKVRVGDDLILVSVSSERYLHLSYGN>G<SLHVDAAFQQTLWSVAPISSGSEAAQGYLI | 229 |
RYR1 | RSEGEKVRVGDDIILVSVSSERYLHLSTAS>G<ELQVDASFMQTLWNMNPICSR--CEEGFVT | 214 |
RYR3 | RSEGEKVRIGDDLILVSVSSERYLHLSVSN>G<NIQVDASFMQTLWNVHPTCSGSSIEEGYLL | 219 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G199V | c.596G>T | Putative Benign | SIFT: Polyphen: | ||
p.Gly199Ser | c.595G>A | Unknown | SIFT: Polyphen: |