No paralogue variants have been mapped to residue 564 for RYR1.
RYR1 | SNCALFSTNLDWLVSKLDRLEASSGILEVL>Y<CVLIESPEVLNIIQENHIKSIISLLDKHGR | 594 |
RYR2 | KNCAQFSGSLDWLISRLERLEASSGILEVL>H<CVLVESPEALNIIKEGHIKSIISLLDKHGR | 606 |
RYR3 | NNCAQFSNNLDWLISKLDRLESSSGILEVL>H<CILTESPEALNLIAEGHIKSIISLLDKHGR | 593 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y564H | c.1690T>C | Putative Benign | SIFT: Polyphen: | ||
p.Y564F | c.1691A>T | Putative Benign | SIFT: Polyphen: |