Paralogue Annotation for RYR1 residue 4733

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4733
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4733

No paralogue variants have been mapped to residue 4733 for RYR1.



RYR1DRLVLNTPSFPSNYWDKFVKRKVLDKHGDI>Y<GRERIAELLGMDLATLEITAHNER-KPNPP4762
RYR2DRLVINTQSFPNNYWDKFVKRKVMDKYGEF>Y<GRDRISELLGMDKAALDFSDAREKKKPKKD4691
RYR3DRLVINTPSFPNNYWDKFVKRKVINKYGDL>Y<GAERIAELLGLDKNALDFSPVEET-KA-EA4594
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y4733Dc.14197T>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587
p.Y4733Cc.14198A>G Putative BenignSIFT:
Polyphen: