No paralogue variants have been mapped to residue 1921 for RYR2.
RYR2 | EGLLQMKLPEPVKLQMCLLLQYLCDCQVRH>R<IEAIVAFSDDFVAKLQDNQRFRYNEVMQAL | 1951 |
RYR1 | EGLLQMKLPESVKLQMCHLLEYFCDQELQH>R<VESLAAFAERYVDKLQANQRSRYGLLIKAF | 1984 |
RYR3 | KGLLQTRLPESVKLQMCELLSYLCDCELQH>R<VEAIVAFGDIYVSKLQANQKFRYNELMQAL | 1852 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1921Q | c.5762G>A | Putative Benign | rs370568809 | SIFT: deleterious Polyphen: probably damaging | |
p.R1921W | c.5761C>T | Putative Benign | SIFT: Polyphen: |