No paralogue variants have been mapped to residue 2792 for RYR1.
RYR1 | THEKWAFDKIQNNWSYGENIDEELKTHPML>R<PYKTFSEKDKEIYRWPIKESLKAMIAWEWT | 2822 |
RYR2 | SHDKWSMDKLANGWIYGEIYSDSSKVQPLM>K<PYKLLSEKEKEIYRWPIKESLKTMLAWGWR | 2788 |
RYR3 | SHDKWACDKSQSGWKYGISLDENVKTHPLI>R<PFKTLTEKEKEIYRWPARESLKTMLAVGWT | 2685 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2792K | c.8375G>A | Putative Benign | SIFT: Polyphen: benign |