No paralogue variants have been mapped to residue 1107 for RYR1.
RYR1 | EKSYTVQSGRWYFEFEAVTTGEMRVGWARP>E<LRPDVELGADELAYVFNGHRGQRWHLGSEP | 1137 |
RYR2 | EKTYAVKAGRWYFEFETVTAGDMRVGWSRP>G<CQPDQELGSDERAFAFDGFKAQRWHQGNEH | 1151 |
RYR3 | ERSYAVRSGKWYFEFEVVTGGDMRVGWARP>G<CRPDVELGADDQAFVFEGNRGQRWHQGSGY | 1137 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1107K | c.3319G>A | Putative Benign | SIFT: Polyphen: |