Paralogue Annotation for RYR1 residue 4664

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4664
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4664

No paralogue variants have been mapped to residue 4664 for RYR1.



RYR1EESTGYMEPALRCLSLLHTLVAFLCIIGYN>C<LKVPLVIFKREKELARKLEFDGLYITEQPE4694
RYR2EESSGYMEPTLRILAILHTVISFFCIIGYY>C<LKVPLVIFKREKEVARKLEFDGLYITEQPS4622
RYR3QESTGYMAPTLRALAIIHTIISLVCVVGYY>C<LKVPLVVFKREKEIARKLEFDGLYITEQPS4527
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C4664Rc.13990T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 30(4):E575-90. 19191333