Paralogue Annotation for RYR1 residue 3985

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3985
Reference Amino Acid: W - Tryptophan
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3985

No paralogue variants have been mapped to residue 3985 for RYR1.



RYR1SVAKQVFNSLTEYIQGPCTGNQQSLAHSRL>W<DAVVGFLHVFAHMMMKLAQDSSQIELLKEL4015
RYR2QVAKQVFNTLTEYIQGPCTGNQQSLAHSRL>W<DAVVGFLHVFAHMQMKLSQDSSQIELLKEL3971
RYR3AVTKQIFNSLTEYIQGPCIGNQQSLAHSRL>W<DAVVGFLHVFANMQMKLSQDSSQIELLKEL3867
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W3985Rc.11953T>C Other Myopathyrs118204422SIFT:
Polyphen:
ReportsOther Myopathy Novel ryanodine receptor mutation that may cause malignant hyperthermia. Anesthesiology. 2008 109(3):457-64. 18719443
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