Paralogue Annotation for RYR1 residue 3981

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3981
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3981

No paralogue variants have been mapped to residue 3981 for RYR1.



RYR1SKAMSVAKQVFNSLTEYIQGPCTGNQQSLA>H<SRLWDAVVGFLHVFAHMMMKLAQDSSQIEL4011
RYR2SKAIQVAKQVFNTLTEYIQGPCTGNQQSLA>H<SRLWDAVVGFLHVFAHMQMKLSQDSSQIEL3967
RYR3SKALAVTKQIFNSLTEYIQGPCIGNQQSLA>H<SRLWDAVVGFLHVFANMQMKLSQDSSQIEL3863
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H3981Yc.11941C>T Conflictrs148772854SIFT:
Polyphen:
ReportsOther Myopathy RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240
Other Disease Phenotype 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