No paralogue variants have been mapped to residue 521 for RYR2.
RYR2 | EEGMINLVLECIDRLHVYSSAAHFADVAGR>E<AGESWKSILNSLYELLAALIRGNRKNCAQF | 551 |
RYR1 | EEGMLSMVLNCIDRLNVYTTAAHFAEFAGE>E<AAESWKEIVNLLYELLASLIRGNRSNCALF | 539 |
RYR3 | EEGMLALVLNCIDRLNVYNSVAHFAGIARE>E<SGMAWKEILNLLYKLLAALIRGNRNNCAQF | 538 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E521K | c.1561G>A | Putative Benign | SIFT: Polyphen: |