Paralogue Annotation for RYR1 residue 2132

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2132
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2132

No paralogue variants have been mapped to residue 2132 for RYR1.



RYR1VVRWAQEDFVQSPELVRAMFSLLHRQYDGL>G<ELLRALPRAYTISPSSVEDTMSLLECLGQI2162
RYR2MVRWAQESVIEDPELVRAMFVLLHRQYDGI>G<GLVRALPKTYTINGVSVEDTINLLASLGQI2126
RYR3MICWAQEDQIQDSELVRMMFNLLRRQYDSI>G<ELLQALRKTYTISHTSVSDTINLLAALGQI2024
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See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2132Sc.6394G>A Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord. 2013 23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. 23628358
Other Disease Phenotype RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145