No paralogue variants have been mapped to residue 879 for RYR1.
RYR1 | DFVPCPVDTVQIVLPPHLERIREKLAENIH>E<LWALTRIEQGWTYGPVRDDNKRLHPCLVDF | 909 |
RYR2 | AFTPIPVDTSQIVLPPHLERIREKLAENIH>E<LWVMNKIELGWQYGPVRDDNKRQHPCLVEF | 921 |
RYR3 | SFIPCPVDTSQVILPPHLEKIRDRLAENIH>E<LWGMNKIELGWTFGKIRDDNKRQHPCLVEF | 908 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E879K | c.2635G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697 | |||
Other Myopathy | RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787 |