No paralogue variants have been mapped to residue 2028 for RYR1.
RYR1 | FRSPPQEQINMLLQFKDGTDEEDCPLPEEI>R<QDLLDFHQDLLAHCGIQLDGEEEEP--EEE | 2056 |
RYR2 | FRSPPQEQINMLLNFKD--DKSECPCPEEI>R<DQLLDFHEDLMTHCGIELDEDG-SLDGNSD | 2022 |
RYR3 | FRSPPQEQINMLLNFQL--GE-NCPCPEEI>R<EELYDFHEDLLLHCGVPLEEEE-EE--EED | 1920 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2028Q | c.6083G>A | Putative Benign | SIFT: Polyphen: |