No paralogue variants have been mapped to residue 1944 for RYR1.
RYR1 | AEGEKEEGLEEGLLQMKLPESVKLQMCHLL>E<YFCDQELQHRVESLAAFAERYVDKLQANQR | 1974 |
RYR2 | -EAKGGKRPKEGLLQMKLPEPVKLQMCLLL>Q<YLCDCQVRHRIEAIVAFSDDFVAKLQDNQR | 1941 |
RYR3 | -EKAGKEAPVKGLLQTRLPESVKLQMCELL>S<YLCDCELQHRVEAIVAFGDIYVSKLQANQK | 1842 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1944Q | c.5830G>C | Putative Benign | SIFT: Polyphen: |