No paralogue variants have been mapped to residue 991 for RYR2.
RYR2 | VKKMKLPKNYQLTSGYKPAPMDLSFIKLTP>S<QEAMVDKLAENAHNVWARDRIRQGWTYGIQ | 1021 |
RYR1 | LKKTKLPKTYMMSNGYKPAPLDLSHVRLTP>A<QTTLVDRLAENGHNVWARDRVGQGWSYSAV | 1009 |
RYR3 | LKKVKLPKNYMMSNGYKPAPLDLSDVKLLP>P<QEILVDKLAENAHNVWAKDRIKQGWTYGIQ | 1008 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S991L | c.2972C>T | Putative Benign | SIFT: Polyphen: |