No paralogue variants have been mapped to residue 4447 for RYR2.
RYR2 | Q--KA---KEEEKEEKEETKSEPEKAEGED>G<EKEEKAKEDKGKQKLR--------QLHTHR | 4469 |
RYR1 | GVDGVEEELPPEPEPEPEPELEPEKADAEN>G<EKEEVPEPTPEPPKKQ---------APPSP | 4530 |
RYR3 | ---QA---AEMKAANEAEGKVESEKADMED>G<EKEDKDKEEEQAEYLWTEVTKKKKRRCGQK | 4380 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4447E | c.13340G>A | Putative Benign | SIFT: Polyphen: |