Paralogue Annotation for RYR1 residue 4897

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4897
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4897

No paralogue variants have been mapped to residue 4897 for RYR1.



RYR1SEDEDEPDMKCDDMMTCYLFHMYVGVRAGG>G<IGDEIEDPAGDEYELYRVVFDITFFFFVIV4927
RYR2SEDGDTPDMKCDDMLTCYMFHMYVGVRAGG>G<IGDEIEDPAGDEYEIYRIIFDITFFFFVIV4856
RYR3SEDDDEPDMKCDDMMTCYLFHMYVGVRAGG>G<IGDEIEDPAGDPYEMYRIVFDITFFFFVIV4759
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4897Vc.14690G>T Other Myopathyrs118192148SIFT:
Polyphen:
ReportsOther Myopathy Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve. 2007 35(5):670-4. 17226826
Other Myopathy Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants. PLoS One. 2013 8(1):e54042. doi: 10.1371/journal.pone.0054042. 23308296
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.G4897Dc.14690G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265