No paralogue variants have been mapped to residue 2400 for RYR1.
RYR1 | GEGGSGLLAAIEEAIRISEDPARDGPGIRR>D<RRREHFGEEPPEENRVHLGHAIMSFYAALI | 2430 |
RYR2 | GEGGNGLLAAMEEAIKIAEDPSRDGPSPNS>-<GSSKTLDTEEEEDDTIHMGNAIMTFYSALI | 2396 |
RYR3 | GEGGNGLLAAMQGAIKISENPALDLPSQGY>-<KREVSTGDDEEEEEIVHMGNAIMSFYSALI | 2293 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2400G | c.7199A>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998 |