Paralogue Annotation for RYR1 residue 2366

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2366
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2366

No paralogue variants have been mapped to residue 2366 for RYR1.



RYR1RFAVFVNGESVEENANVVVRLLIRKPECFG>P<ALRGEGGSGLLAAIEEAIRISEDPARDGPG2396
RYR2RFAVFCNGESVEENANVVVRLLIRRPECFG>P<ALRGEGGNGLLAAMEEAIKIAEDPSRDGPS2363
RYR3RFAVFVNSESVEENASVVVKLLIRRPECFG>P<ALRGEGGNGLLAAMQGAIKISENPALDLPS2260
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2366Rc.7097C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943