No paralogue variants have been mapped to residue 4713 for RYR1.
RYR1 | EFDGLYITEQPEDDDVKGQWDRLVLNTPSF>P<SNYWDKFVKRKVLDKHGDIYGRERIAELLG | 4743 |
RYR2 | EFDGLYITEQPSEDDIKGQWDRLVINTQSF>P<NNYWDKFVKRKVMDKYGEFYGRDRISELLG | 4671 |
RYR3 | EFDGLYITEQPSEDDIKGQWDRLVINTPSF>P<NNYWDKFVKRKVINKYGDLYGAERIAELLG | 4576 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4713R | c.14138C>G | Putative Benign | SIFT: Polyphen: |