No paralogue variants have been mapped to residue 4189 for RYR1.
RYR1 | LHNFLELAESILEYFRPYLGRIEIMGASRR>I<ERIYFEISETNRAQWEMPQVKESKRQFIFD | 4219 |
RYR2 | LQTFLELAESVLNYFQPFLGRIEIMGSAKR>I<ERVYFEISESSRTQWEKPQVKESKRQFIFD | 4175 |
RYR3 | LKCLLDPAESVLNYFEPYLGRIEIMGGAKK>I<ERVYFEISESSRTQWEKPQVKESKRQFIFD | 4071 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4189V | c.12565A>G | Putative Benign | SIFT: Polyphen: |