No paralogue variants have been mapped to residue 4370 for RYR1.
RYR1 | VTRAGAAGAGAAAGALGLLWGSLFGGGLVE>G<AKKVTVTELLAGMPDPTSDEVHGEQPAGPG | 4400 |
RYR2 | FMTLLHFVASVFRGFFRIICSLLLGGSLVE>G<AKKIKVAELLANMPDPTQDEVRGDGEEGER | 4351 |
RYR3 | FVGLFQLLFTILGGIFQILWSTVFGGGLVE>G<AKNIRVTKILGDMPDPTQFGIHDDTMEAER | 4252 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4370D | c.13109G>A | Putative Benign | SIFT: Polyphen: |