No paralogue variants have been mapped to residue 4891 for RYR1.
RYR1 | RKFYNKSEDEDEPDMKCDDMMTCYLFHMYV>G<VRAGGGIGDEIEDPAGDEYELYRVVFDITF | 4921 |
RYR2 | RKFYNKSEDGDTPDMKCDDMLTCYMFHMYV>G<VRAGGGIGDEIEDPAGDEYEIYRIIFDITF | 4850 |
RYR3 | RKFYNKSEDDDEPDMKCDDMMTCYLFHMYV>G<VRAGGGIGDEIEDPAGDPYEMYRIVFDITF | 4753 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4891R | c.14671G>C | Other Myopathy | rs118192149 | SIFT: Polyphen: | |
Reports | Other Myopathy | Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 10(25):2879-87. 11741831 | |||
Other Myopathy | The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. J Gen Physiol. 2003 121(4):277-86. 12642598 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
p.Gly4891Asp | c.14672G>A | Unknown | SIFT: Polyphen: |