No paralogue variants have been mapped to residue 802 for RYR1.
RYR1 | LDGLFFPVVSFSAGVKVRFLLGGRHGEFKF>L<PPPGYAPCHEAVLPRERLHLEPIKEYRREG | 832 |
RYR2 | IDGLFFPVVSFSAGIKVRFLLGGRHGEFKF>L<PPPGYAPCYEAVLPKEKLKVEHSREYKQER | 844 |
RYR3 | TDGLFFPVMSFSAGVKVRFLMGGRHGEFKF>L<PPSGYAPCYEALLPKEKMRLEPVKEYKRDA | 831 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L802V | c.2404C>G | Putative Benign | SIFT: Polyphen: |