No paralogue variants have been mapped to residue 4451 for RYR2.
RYR2 | A---KEEEKEEKEETKSEPEKAEGEDGEKE>E<KAKEDKGKQKLR--------QLHTHRYGEP | 4473 |
RYR1 | VEEELPPEPEPEPEPELEPEKADAENGEKE>E<VPEPTPEPPKKQ---------APPSPPPKK | 4534 |
RYR3 | A---AEMKAANEAEGKVESEKADMEDGEKE>D<KDKEEEQAEYLWTEVTKKKKRRCGQKVEKP | 4384 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4451K | c.13351G>A | Putative Benign | SIFT: Polyphen: |