No paralogue variants have been mapped to residue 367 for RYR1.
RYR1 | EIKYGESLCFVQHVASGLWLTYAAPDPKAL>R<LGVLKKKAMLHQEGHMDDALSLTRCQQEES | 397 |
RYR2 | EIKYGDSVCYIQHVDTGLWLTYQSVDVKSV>R<MGSIQRKAIMHHEGHMDDGISLSRSQHEES | 413 |
RYR3 | EIKYGDSVCFVQHIASGLWVTYKAQDAKTS>R<LGPLKRKVILHQEGHMDDGLTLQRCQREES | 405 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R367Q | c.1100G>A | Other Myopathy | rs113332073 | SIFT: Polyphen: | |
Reports | Other Myopathy | Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904 | |||
p.R367L | c.1100G>T | Other Myopathy | rs113332073 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.R367W | c.1099C>T | Putative Benign | rs140037232 | SIFT: Polyphen: probably damaging |