Paralogue Annotation for RYR1 residue 3983

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3983
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3983

No paralogue variants have been mapped to residue 3983 for RYR1.



RYR1AMSVAKQVFNSLTEYIQGPCTGNQQSLAHS>R<LWDAVVGFLHVFAHMMMKLAQDSSQIELLK4013
RYR2AIQVAKQVFNTLTEYIQGPCTGNQQSLAHS>R<LWDAVVGFLHVFAHMQMKLSQDSSQIELLK3969
RYR3ALAVTKQIFNSLTEYIQGPCIGNQQSLAHS>R<LWDAVVGFLHVFANMQMKLSQDSSQIELLK3865
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3983Hc.11948G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Administration of ondansetron is associated with lethal outcome. Pediatrics. 2010 125(6):e1514-7. 20439600
p.R3983Cc.11947C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families. Anesthesiology. 2011 115(5):938-45. 21918424