No paralogue variants have been mapped to residue 2366 for RYR1.
RYR1 | RFAVFVNGESVEENANVVVRLLIRKPECFG>P<ALRGEGGSGLLAAIEEAIRISEDPARDGPG | 2396 |
RYR2 | RFAVFCNGESVEENANVVVRLLIRRPECFG>P<ALRGEGGNGLLAAMEEAIKIAEDPSRDGPS | 2363 |
RYR3 | RFAVFVNSESVEENASVVVKLLIRRPECFG>P<ALRGEGGNGLLAAMQGAIKISENPALDLPS | 2260 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2366R | c.7097C>G | Other Myopathy | rs193922806 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 |