No paralogue variants have been mapped to residue 4321 for RYR2.
RYR2 | FMTLLHFVASVFRGFFRIICSLLLGGSLVE>G<AKKIKVAELLANMPDPTQDEVRGDGEEGER | 4351 |
RYR1 | VTRAGAAGAGAAAGALGLLWGSLFGGGLVE>G<AKKVTVTELLAGMPDPTSDEVHGEQPAGPG | 4400 |
RYR3 | FVGLFQLLFTILGGIFQILWSTVFGGGLVE>G<AKNIRVTKILGDMPDPTQFGIHDDTMEAER | 4252 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4321V | c.12962G>T | Putative Benign | SIFT: Polyphen: |