Paralogue Annotation for RYR1 residue 1469

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1469
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1469

No paralogue variants have been mapped to residue 1469 for RYR1.



RYR1FAGQEPSCVWAGWVTPDYHQHDMSFDLSKV>R<VVTVTMGDEQGNVHSSLKCSNCYMVWGGDF1499
RYR2FPGQEPANVWVGWITSDFHQYDTGFDLDRV>R<TVTVTLGDEKGKVHESIKRSNCYMVCAGES1493
RYR3FAGQDPSCVWVGWVTPDYHLYSEKFDLNKN>C<TVTVTLGDERGRVHESVKRSNCYMVWGGDI1395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1469Wc.4405C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240
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 Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027
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 Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594