No paralogue variants have been mapped to residue 4500 for RYR1.
RYR1 | SP-ILKRKLGVDGVEEELPPEPEPEPEPEL>E<PEKADAENGEKEEVPEPTPEPPKKQ----- | 4525 |
RYR2 | -V-QEKFQEQ--KA---KEEEKEEKEETKS>E<PEKAEGEDGEKEEKAKEDKGKQKLR----- | 4463 |
RYR3 | STVQKKRKA---QA---AEMKAANEAEGKV>E<SEKADMEDGEKEDKDKEEEQAEYLWTEVTK | 4371 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4500K | c.13498G>A | Putative Benign | SIFT: Polyphen: |