No paralogue variants have been mapped to residue 4336 for RYR2.
RYR2 | FRIICSLLLGGSLVEGAKKIKVAELLANMP>D<PTQDEVRGDGEEGERKP-LEAALPSEDLTD | 4365 |
RYR1 | LGLLWGSLFGGGLVEGAKKVTVTELLAGMP>D<PTSDEVHGEQPAGPGGDADGEGASEGAGDA | 4415 |
RYR3 | FQILWSTVFGGGLVEGAKNIRVTKILGDMP>D<PTQFGIHDDTMEAERAEVMEPGITTELVHF | 4267 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4336E | c.13008C>A | Putative Benign | SIFT: Polyphen: |