No paralogue variants have been mapped to residue 1101 for RYR1.
RYR1 | VRIFRAEKSYTVQSGRWYFEFEAVTTGEMR>V<GWARPELRPDVELGADELAYVFNGHRGQRW | 1131 |
RYR2 | FRIFRAEKTYAVKAGRWYFEFETVTAGDMR>V<GWSRPGCQPDQELGSDERAFAFDGFKAQRW | 1145 |
RYR3 | IRFFRVERSYAVRSGKWYFEFEVVTGGDMR>V<GWARPGCRPDVELGADDQAFVFEGNRGQRW | 1131 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1101M | c.3301G>A | Putative Benign | rs145088074 | SIFT: Polyphen: possibly damaging |