No paralogue variants have been mapped to residue 3214 for RYR1.
RYR1 | EKLRPALGECLARLAAAMPVAFLEPQLNEY>N<ACSVYTTKSPRERAILGLPNSVEEMCPDIP | 3244 |
RYR2 | ERQRSALGECLAAFAGAFPVAFLETHLDKH>N<IYSIYNTKSSRERAALSLPTNVEDVCPNIP | 3209 |
RYR3 | ERQRPALGECLASLAAAIPVAFLEPTLNRY>N<PLSVFNTKTPRERSILGMPDTVEDMCPDIP | 3105 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N3214D | c.9640A>G | Putative Benign | rs377541724 | SIFT: deleterious Polyphen: benign |