No paralogue variants have been mapped to residue 521 for RYR1.
RYR1 | DRLNVYTTAAHFAEFAGEEAAESWKEIVNL>L<YELLASLIRGNRSNCALFSTNLDWLVSKLD | 551 |
RYR2 | DRLHVYSSAAHFADVAGREAGESWKSILNS>L<YELLAALIRGNRKNCAQFSGSLDWLISRLE | 563 |
RYR3 | DRLNVYNSVAHFAGIAREESGMAWKEILNL>L<YKLLAALIRGNRNNCAQFSNNLDWLISKLD | 550 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L521F | c.1561C>T | Putative Benign | SIFT: Polyphen: | ||
p.L521V | c.1561C>G | Putative Benign | SIFT: Polyphen: |