No paralogue variants have been mapped to residue 2024 for RYR1.
RYR1 | RTREFRSPPQEQINMLLQFKDGTDEEDCPL>P<EEIRQDLLDFHQDLLAHCGIQLDGEEEEP- | 2053 |
RYR2 | KTKEFRSPPQEQINMLLNFKD--DKSECPC>P<EEIRDQLLDFHEDLMTHCGIELDEDG-SLD | 2018 |
RYR3 | KTKEFRSPPQEQINMLLNFQL--GE-NCPC>P<EEIREELYDFHEDLLLHCGVPLEEEE-EE- | 1917 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2024S | c.6070C>T | Putative Benign | SIFT: Polyphen: |