No paralogue variants have been mapped to residue 3016 for RYR1.
RYR1 | VEKSPHEQEIKFFAKILLPLINQYFTNHCL>Y<FLSTPAKVLGSGGHASNKEKEMITSLFCKL | 3046 |
RYR2 | GEHFPYEQEIKFFAKVVLPLIDQYFKNHRL>Y<FLSAASRPLCSGGHASNKEKEMVTSLFCKL | 3011 |
RYR3 | TEKSPRDQEIKFFAKVLLPLVDQYFTSHCL>Y<FLSSPLKPLSSSGYASHKEKEMVAGLFCKL | 2907 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y3016C | c.9047A>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Variable myopathic presentation in a single family with novel skeletal RYR1 mutation. PLoS One. 2013 8(7):e69296. doi: 10.1371/journal.pone.0069296. Pr 23894444 | |||
p.Y3016H | c.9046T>C | Putative Benign | SIFT: Polyphen: |