No paralogue variants have been mapped to residue 3347 for RYR2.
RYR2 | THFLPLMEKLKKKAATVVSEEDHLKAEARG>D<MSEAELLILDEFTTLARDLYAFYPLLIRFV | 3377 |
RYR1 | SHFIPTIGRLRKRAGKVVSEEEQLRLEAKA>E<AQEGELLVRDEFSVLCRDLYALYPLLIRYV | 3416 |
RYR3 | SHFIPTLEKLKKKAVKTVQEEEQLKADGKG>D<TQEAELLILDEFAVLCRDLYAFYPMLIRYV | 3273 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3347N | c.10039G>A | Putative Benign | SIFT: deleterious Polyphen: benign |