No paralogue variants have been mapped to residue 973 for RYR1.
RYR1 | EKAEDNLKKTKLPKTYMMSNGYKPAPLDLS>H<VRLTPAQTTLVDRLAENGHNVWARDRVGQG | 1003 |
RYR2 | EHAEDKVKKMKLPKNYQLTSGYKPAPMDLS>F<IKLTPSQEAMVDKLAENAHNVWARDRIRQG | 1015 |
RYR3 | PAAEEDLKKVKLPKNYMMSNGYKPAPLDLS>D<VKLLPPQEILVDKLAENAHNVWAKDRIKQG | 1002 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H973Q | c.2919C>G | Putative Benign | SIFT: Polyphen: |