Paralogue Annotation for RYR1 residue 868

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 868
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 868

No paralogue variants have been mapped to residue 868 for RYR1.



RYR1LVGPSRCLSHTDFVPCPVDTVQIVLPPHLE>R<IREKLAENIHELWALTRIEQGWTYGPVRDD898
RYR2LLGPTVSLTQAAFTPIPVDTSQIVLPPHLE>R<IREKLAENIHELWVMNKIELGWQYGPVRDD910
RYR3LLGTTQFLSQASFIPCPVDTSQVILPPHLE>K<IRDRLAENIHELWGMNKIELGWTFGKIRDD897
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R868Cc.2602C>T Putative BenignSIFT:
Polyphen: probably damaging
p.R868Hc.2603G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145