Paralogue Annotation for RYR1 residue 986

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 986
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 986

No paralogue variants have been mapped to residue 986 for RYR1.



RYR1KTYMMSNGYKPAPLDLSHVRLTPAQTTLVD>R<LAENGHNVWARDRVGQGWSYSAVQDIPARR1016
RYR2KNYQLTSGYKPAPMDLSFIKLTPSQEAMVD>K<LAENAHNVWARDRIRQGWTYGIQQDVKNRR1028
RYR3KNYMMSNGYKPAPLDLSDVKLLPPQEILVD>K<LAENAHNVWAKDRIKQGWTYGIQQDLKNKR1015
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See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R986Cc.2956C>T Other MyopathySIFT:
Polyphen:
ReportsOther 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 Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Other Myopathy Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
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 Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594