No paralogue variants have been mapped to residue 4081 for RYR1.
RYR1 | SSNVEMILKFFDMFLKLKDIVGSEAFQDYV>T<DPRGLISKKDFQKAMDSQKQFSGPEIQFLL | 4111 |
RYR2 | SNNVEMILKFFDMFLKLKDLTSSDTFKEYD>P<DGKGVISKRDFHKAMESHKHYTQSETEFLL | 4067 |
RYR3 | STNVEMILKFFDMFLKLKDLTSSDTFKEYD>P<DGKGIISKKEFQKAMEGQKQYTQSEIDFLL | 3963 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4081M | c.12242C>T | Other Myopathy | rs373406011 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.T4081S | c.12241A>T | Putative Benign | rs193922845 | SIFT: Polyphen: benign |