No paralogue variants have been mapped to residue 974 for RYR1.
RYR1 | KAEDNLKKTKLPKTYMMSNGYKPAPLDLSH>V<RLTPAQTTLVDRLAENGHNVWARDRVGQGW | 1004 |
RYR2 | HAEDKVKKMKLPKNYQLTSGYKPAPMDLSF>I<KLTPSQEAMVDKLAENAHNVWARDRIRQGW | 1016 |
RYR3 | AAEEDLKKVKLPKNYMMSNGYKPAPLDLSD>V<KLLPPQEILVDKLAENAHNVWAKDRIKQGW | 1003 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V974M | c.2920G>A | Putative Benign | SIFT: Polyphen: |