Paralogue Annotation for RYR1 residue 1393

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1393
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1393

No paralogue variants have been mapped to residue 1393 for RYR1.



RYR1AGGEAQPARAENEKDATTEKNKKRGFLFKA>K<KVAMMTQPPATPTLPRLPHDVVPADNRDDP1423
RYR2--------------DYAQEKP-SR--LKQR>F<LLRRTKPDYSTSHSARLTEDVLADDRDDYD1418
RYR3------------------------------>-<-------------SPCLDSEAFQKRKQMQE1319
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1393Rc.4178A>G ConflictSIFT:
Polyphen:
ReportsOther Myopathy Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010 111(1):185-90. 20142353
Other Myopathy A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375
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 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 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395
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