Paralogue Annotation for RYR1 residue 1352

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1352
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1352

No paralogue variants have been mapped to residue 1352 for RYR1.



RYR1ARAAEPDPDYENLRRSAGGWSEAENGKEGT>A<KEGAPGGTPQAGGEAQPARAENEKDATTEK1382
RYR2LEDYDADSDFEVLMKTAHGHLVPDRVDKDK>E<ATKPEFNNHK--------------DYAQEK1380
RYR3------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1352Gc.4055C>G ConflictSIFT:
Polyphen:
ReportsOther Myopathy Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329
Other Myopathy Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Mol Genet Metab. 2011 104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. 21795085
Other Myopathy An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
Other Myopathy Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. Anaesth Intensive Care. 2015 43(2):157-66. 25735680
Other Myopathy Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015 47(7):717-26. doi: 10.1038/ng.3304. 25985138
Other Myopathy Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.A1352Tc.4054G>A Other Disease PhenotypeSIFT:
Polyphen: