No paralogue variants have been mapped to residue 1664 for RYR1.
RYR1 | TMMALHIPEENRCMDILELSERLDLQRFHS>H<TLRLYRAVCALGNNRVAHALCSHVDQAQLL | 1694 |
RYR2 | QFMSLHIPEENRSVDILELTEQEELLKFHY>H<TLRLYSAVCALGNHRVAHALCSHVDEPQLL | 1686 |
RYR3 | QMMALHIPEENRCVDILELCEQEDLMRFHY>H<TLRLYSAVCALGNSRVAYALCSHVDLSQLF | 1590 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1664L | c.4991A>T | Putative Benign | SIFT: Polyphen: |