No paralogue variants have been mapped to residue 2545 for RYR1.
RYR1 | QDFLLHVLDVGFLPDMRAAASLDTATFSTT>E<MALALNRYLCLAVLPLITKCAPLFAGTEHR | 2575 |
RYR2 | QDFLLHLLEVGFLPDLRAAASLDTAALSAT>D<MALALNRYLCTAVLPLLTRCAPLFAGTEHH | 2541 |
RYR3 | QTFLLHLLEVGFLPDLRASASLDTVSLSTT>E<AALALNRYICSAVLPLLTRCAPLFAGTEHC | 2438 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2545D | c.7635G>C | Other Myopathy | rs193922820 | SIFT: Polyphen: | |
Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
Other Myopathy | Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 104(6):1146-54. 16732084 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
p.E2545Q | c.7633G>C | Putative Benign | SIFT: Polyphen: | ||
p.E2545K | c.7633G>A | Putative Benign | SIFT: Polyphen: |