No paralogue variants have been mapped to residue 1916 for RYR1.
RYR1 | EEDEEEKEEDEEETAQEKEDEEKEEEEAAE>G<EKEEGLEEGLLQMKLPESVKLQMCHLLEYF | 1946 |
RYR2 | -E-K---ELS----VDDAK-LQGAGEE--E>A<KGGKRPKEGLLQMKLPEPVKLQMCLLLQYL | 1913 |
RYR3 | -E-E---VTQ----VEEKA-VEAG-----E>K<AGKEAPVKGLLQTRLPESVKLQMCELLSYL | 1814 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1916R | c.5746G>C | Putative Benign | SIFT: Polyphen: | ||
p.G1916W | c.5746G>T | Putative Benign | SIFT: Polyphen: |