No paralogue variants have been mapped to residue 527 for RYR2.
RYR2 | LVLECIDRLHVYSSAAHFADVAGREAGESW>K<SILNSLYELLAALIRGNRKNCAQFSGSLDW | 557 |
RYR1 | MVLNCIDRLNVYTTAAHFAEFAGEEAAESW>K<EIVNLLYELLASLIRGNRSNCALFSTNLDW | 545 |
RYR3 | LVLNCIDRLNVYNSVAHFAGIAREESGMAW>K<EILNLLYKLLAALIRGNRNNCAQFSNNLDW | 544 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K527R | c.1580A>G | Putative Benign | SIFT: Polyphen: |