No paralogue variants have been mapped to residue 2804 for RYR1.
RYR1 | NWSYGENIDEELKTHPMLRPYKTFSEKDKE>I<YRWPIKESLKAMIAWEWTIEKAREGEEEK- | 2833 |
RYR2 | GWIYGEIYSDSSKVQPLMKPYKLLSEKEKE>I<YRWPIKESLKTMLAWGWRIERTREGDSMAL | 2800 |
RYR3 | GWKYGISLDENVKTHPLIRPFKTLTEKEKE>I<YRWPARESLKTMLAVGWTVERTKEGEALVQ | 2697 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2804F | c.8410A>T | Putative Benign | SIFT: Polyphen: |