Paralogue Annotation for RYR1 residue 2355

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2355
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2355

No paralogue variants have been mapped to residue 2355 for RYR1.



RYR1PCGGERYLDFLRFAVFVNGESVEENANVVV>R<LLIRKPECFGPALRGEGGSGLLAAIEEAIR2385
RYR2PVEGERYLDFLRFAVFCNGESVEENANVVV>R<LLIRRPECFGPALRGEGGNGLLAAMEEAIK2352
RYR3PIEGERYLSFLRFAVFVNSESVEENASVVV>K<LLIRRPECFGPALRGEGGNGLLAAMQGAIK2249
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2355Wc.7063C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. Clin Genet. 2002 62(1):80-3. 12123492
Other Myopathy Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156
Other Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935
Other Myopathy Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model. Neuromuscul Disord. 2004 14(7):429-37. 15210166
Other Myopathy Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838
Other Myopathy Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. Anesth Analg. 2014 118(2):375-80. doi: 10.1213/ANE.0b013e3182a273ea. 24361844
p.R2355Qc.7064G>A Putative BenignSIFT:
Polyphen: probably damaging