No paralogue variants have been mapped to residue 4353 for RYR1.
RYR1 | LTAREAATAVAALLWAAVTRAGAAGAGAAA>G<ALGLLWGSLFGGGLVEGAKKVTVTELLAGM | 4383 |
RYR2 | MTVKDMVTAFFSSYWSIFMTLLHFVASVFR>G<FFRIICSLLLGGSLVEGAKKIKVAELLANM | 4334 |
RYR3 | MTAKELVKVLFSFFWMLFVGLFQLLFTILG>G<IFQILWSTVFGGGLVEGAKNIRVTKILGDM | 4235 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4353D | c.13058G>A | Putative Benign | SIFT: tolerated Polyphen: benign |