No paralogue variants have been mapped to residue 2591 for RYR1.
RYR1 | LITKCAPLFAGTEHRAIMVDSMLHTVYRLS>R<GRSLTKAQRDVIEDCLMSLCRYIRPSMLQH | 2621 |
RYR2 | LLTRCAPLFAGTEHHASLIDSLLHTVYRLS>K<GCSLTKAQRDSIEVCLLSICGQLRPSMMQH | 2587 |
RYR3 | LLTRCAPLFAGTEHCTSLIDSTLQTIYRLS>K<GRSLTKAQRDTIEECLLAICNHLRPSMLQQ | 2484 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2591G | c.7771C>G | Other Myopathy | rs193922822 | 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.R2591W | c.7771C>T | Other Myopathy | rs193922822 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.R2591L | c.7772G>T | Putative Benign | SIFT: Polyphen: | ||
p.R2591P | c.7772G>C | Putative Benign | SIFT: Polyphen: |