Paralogue Annotation for RYR1 residue 3016

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3016
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3016

No paralogue variants have been mapped to residue 3016 for RYR1.



RYR1VEKSPHEQEIKFFAKILLPLINQYFTNHCL>Y<FLSTPAKVLGSGGHASNKEKEMITSLFCKL3046
RYR2GEHFPYEQEIKFFAKVVLPLIDQYFKNHRL>Y<FLSAASRPLCSGGHASNKEKEMVTSLFCKL3011
RYR3TEKSPRDQEIKFFAKVLLPLVDQYFTSHCL>Y<FLSSPLKPLSSSGYASHKEKEMVAGLFCKL2907
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y3016Cc.9047A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Variable myopathic presentation in a single family with novel skeletal RYR1 mutation. PLoS One. 2013 8(7):e69296. doi: 10.1371/journal.pone.0069296. Pr 23894444
p.Y3016Hc.9046T>C Putative BenignSIFT:
Polyphen: