Paralogue Annotation for RYR1 residue 1583

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1583
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1583

No paralogue variants have been mapped to residue 1583 for RYR1.



RYR1VLPTHQNVIQFELGKQKNIMPLSAAMFQSE>R<KNPAPQCPPRLEMQMLMPVSWSRMPNHFLQ1613
RYR2AQATSPNVFQFELGRIKNVMPLSAGLFKSE>H<KNPVPQCPPRLHVQFLSHVLWSRMPNQFLK1605
RYR3LQPTSTSLFQFELGKLKNAMPLSAAIFRSE>E<KNPVPQCPPRLDVQTIQPVLWSRMPNSFLK1509
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1583Cc.4747C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. Br J Anaesth. 2013 110(1):122-7. doi: 10.1093/bja/aes341. 23035052
Other Myopathy Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases. Br J Anaesth. 2009 102(5):642-9. 19346234
p.R1583Hc.4748G>A Putative BenignSIFT:
Polyphen: