No paralogue variants have been mapped to residue 3416 for RYR1.
RYR1 | EAQEGELLVRDEFSVLCRDLYALYPLLIRY>V<DNNRAQWLTEPNPSAEELFRMVGEIFIYWS | 3446 |
RYR2 | DMSEAELLILDEFTTLARDLYAFYPLLIRF>V<DYNRAKWLKEPNPEAEELFRMVAEVFIYWS | 3407 |
RYR3 | DTQEAELLILDEFAVLCRDLYAFYPMLIRY>V<DNNRSNWLKSPDADSDQLFRMVAEVFILWC | 3303 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3416M | c.10246G>A | Putative Benign | SIFT: Polyphen: |