No paralogue variants have been mapped to residue 3853 for RYR2.
RYR2 | ---GEKVLQDDEFTCDLFRFLQLLCEGHNS>D<FQNYLRTQTGNNTTVNIIISTVDYLLRVQE | 3883 |
RYR1 | RQNGEKVMADDEFTQDLFRFLQLLCEGHNN>D<FQNYLRTQTGNTTTINIIICTVDYLLRLQE | 3927 |
RYR3 | RERGEKVLQNDEFTRDLFRFLQLLCEGHNS>D<FQNFLRTQMGNTTTVNVIISTVDYLLRLQE | 3779 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3853N | c.11557G>A | Putative Benign | rs12742148 | SIFT: deleterious Polyphen: probably damaging |