Paralogue Annotation for RYR1 residue 4724

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4724
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4724

No paralogue variants have been mapped to residue 4724 for RYR1.



RYR1EDDDVKGQWDRLVLNTPSFPSNYWDKFVKR>K<VLDKHGDIYGRERIAELLGMDLATLEITAH4754
RYR2SEDDIKGQWDRLVINTQSFPNNYWDKFVKR>K<VMDKYGEFYGRDRISELLGMDKAALDFSDA4682
RYR3SEDDIKGQWDRLVINTPSFPNNYWDKFVKR>K<VINKYGDLYGAERIAELLGLDKNALDFSPV4587
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K4724Qc.14170A>C Other Myopathyrs118192141SIFT:
Polyphen:
ReportsOther Myopathy Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003 126(Pt 11):2341-9. 12937085
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146