No paralogue variants have been mapped to residue 2304 for RYR1.
RYR1 | DVAAASVIDNNELALALQEQDLEKVVSYLA>G<CGLQSCPMLVAKGYPDIGWNPCGGERYLDF | 2334 |
RYR2 | DVAAASVMDNNELALALREPDLEKVVRYLA>G<CGLQSCQMLVSKGYPDIGWNPVEGERYLDF | 2301 |
RYR3 | DVAASSVMDNNELALSLEEPDLEKVVTYLA>G<CGLQSCPMLLAKGYPDVGWNPIEGERYLSF | 2198 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2304S | c.6910G>A | Putative Benign | rs377080876 | SIFT: tolerated Polyphen: probably damaging | |
p.G2304A | c.6911G>C | Putative Benign | SIFT: Polyphen: |