No paralogue variants have been mapped to residue 748 for RYR2.
RYR2 | VGDDLFSYGFDGLHLWSGCIARTVSSPNQH>L<LRTDDVISCCLDLSAPSISFRINGQPVQGM | 778 |
RYR1 | VGDDLYSYGFDGLHLWTGHVARPVTSPGQH>L<LAPEDVISCCLDLSVPSISFRINGCPVQGV | 766 |
RYR3 | VGDDLYSYGFDGLHLWSGRIPRAVASINQH>L<LRSDDVVSCCLDLGVPSISFRINGQPVQGM | 765 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L748M | c.2242C>A | Putative Benign | SIFT: Polyphen: |