No paralogue variants have been mapped to residue 539 for RYR2.
RYR2 | SSAAHFADVAGREAGESWKSILNSLYELLA>A<LIRGNRKNCAQFSGSLDWLISRLERLEASS | 569 |
RYR1 | TTAAHFAEFAGEEAAESWKEIVNLLYELLA>S<LIRGNRSNCALFSTNLDWLVSKLDRLEASS | 557 |
RYR3 | NSVAHFAGIAREESGMAWKEILNLLYKLLA>A<LIRGNRNNCAQFSNNLDWLISKLDRLESSS | 556 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A539V | c.1616C>T | Putative Benign | SIFT: Polyphen: |