Paralogue Annotation for RYR1 residue 4887

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4887
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4887

No paralogue variants have been mapped to residue 4887 for RYR1.



RYR1FNFFRKFYNKSEDEDEPDMKCDDMMTCYLF>H<MYVGVRAGGGIGDEIEDPAGDEYELYRVVF4917
RYR2FNFFRKFYNKSEDGDTPDMKCDDMLTCYMF>H<MYVGVRAGGGIGDEIEDPAGDEYEIYRIIF4846
RYR3FNFFRKFYNKSEDDDEPDMKCDDMMTCYLF>H<MYVGVRAGGGIGDEIEDPAGDPYEMYRIVF4749
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H4887Yc.14659C>T Other Myopathyrs118192147SIFT:
Polyphen:
ReportsOther Myopathy Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies. J Neuropathol Exp Neurol. 2007 66(1):57-65. 17204937
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146