No paralogue variants have been mapped to residue 3833 for RYR2.
RYR2 | ERQNKAEGLGMVTEEGS------GEKVLQD>D<EFTCDLFRFLQLLCEGHNSDFQNYLRTQTG | 3863 |
RYR1 | ERQNKAEGLGMVNEDGTVINRQNGEKVMAD>D<EFTQDLFRFLQLLCEGHNNDFQNYLRTQTG | 3907 |
RYR3 | ERQNKAEGLGMVTEEGTLIVRERGEKVLQN>D<EFTRDLFRFLQLLCEGHNSDFQNFLRTQMG | 3759 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3833N | c.11497G>A | Putative Benign | SIFT: Polyphen: |