No paralogue variants have been mapped to residue 975 for RYR1.
RYR1 | AEDNLKKTKLPKTYMMSNGYKPAPLDLSHV>R<LTPAQTTLVDRLAENGHNVWARDRVGQGWS | 1005 |
RYR2 | AEDKVKKMKLPKNYQLTSGYKPAPMDLSFI>K<LTPSQEAMVDKLAENAHNVWARDRIRQGWT | 1017 |
RYR3 | AEEDLKKVKLPKNYMMSNGYKPAPLDLSDV>K<LLPPQEILVDKLAENAHNVWAKDRIKQGWT | 1004 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R975W | c.2923C>T | Putative Benign | rs371278145 | SIFT: deleterious Polyphen: probably damaging | |
p.R975Q | c.2924G>A | Putative Benign | SIFT: Polyphen: |