Paralogue Annotation for RYR1 residue 3986

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3986
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3986

No paralogue variants have been mapped to residue 3986 for RYR1.



RYR1VAKQVFNSLTEYIQGPCTGNQQSLAHSRLW>D<AVVGFLHVFAHMMMKLAQDSSQIELLKELL4016
RYR2VAKQVFNTLTEYIQGPCTGNQQSLAHSRLW>D<AVVGFLHVFAHMQMKLSQDSSQIELLKELM3972
RYR3VTKQIFNSLTEYIQGPCIGNQQSLAHSRLW>D<AVVGFLHVFANMQMKLSQDSSQIELLKELL3868
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D3986Ec.11958C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
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 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 Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
Other Myopathy RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159