No paralogue variants have been mapped to residue 3378 for RYR2.
RYR2 | MSEAELLILDEFTTLARDLYAFYPLLIRFV>D<YNRAKWLKEPNPEAEELFRMVAEVFIYWSK | 3408 |
RYR1 | AQEGELLVRDEFSVLCRDLYALYPLLIRYV>D<NNRAQWLTEPNPSAEELFRMVGEIFIYWSK | 3447 |
RYR3 | TQEAELLILDEFAVLCRDLYAFYPMLIRYV>D<NNRSNWLKSPDADSDQLFRMVAEVFILWCK | 3304 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3378A | c.10133A>C | Putative Benign | SIFT: Polyphen: |