No paralogue variants have been mapped to residue 4389 for RYR1.
RYR1 | WGSLFGGGLVEGAKKVTVTELLAGMPDPTS>D<EVHGEQPAGPGGDADGEGASEGAGDAAEGA | 4419 |
RYR2 | CSLLLGGSLVEGAKKIKVAELLANMPDPTQ>D<EVRGDGEEGERKP-LEAALPSEDLTDLKEL | 4369 |
RYR3 | WSTVFGGGLVEGAKNIRVTKILGDMPDPTQ>F<GIHDDTMEAERAEVMEPGITTELVHFIKGE | 4271 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4389N | c.13165G>A | Putative Benign | SIFT: Polyphen: |