Paralogue Annotation for RYR1 residue 3021

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3021
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3021

No paralogue variants have been mapped to residue 3021 for RYR1.



RYR1HEQEIKFFAKILLPLINQYFTNHCLYFLST>P<AKVLGSGGHASNKEKEMITSLFCKLAALVR3051
RYR2YEQEIKFFAKVVLPLIDQYFKNHRLYFLSA>A<SRPLCSGGHASNKEKEMVTSLFCKLGVLVR3016
RYR3RDQEIKFFAKVLLPLVDQYFTSHCLYFLSS>P<LKPLSSSGYASHKEKEMVAGLFCKLAALVR2912
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P3021Lc.9062C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935