No paralogue variants have been mapped to residue 2685 for RYR1.
RYR1 | YCLPTGWANFGVTSEEELHLTRKLFWGIFD>S<LAHKKYDPELYRMAMPCLCAIAGALPPDYV | 2715 |
RYR2 | YCLPGGWGNFGAASEEELHLSRKLFWGIFD>A<LSQKKYEQELFKLALPCLSAVAGALPPDYM | 2681 |
RYR3 | YCLPSGWGSYGLAVEEELHLTEKLFWGIFD>S<LSHKKYDPDLFRMALPCLSAIAGALPPDYL | 2578 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2685F | c.8054C>T | Putative Benign | SIFT: Polyphen: |