Paralogue Annotation for RYR1 residue 2050

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2050
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2050

No paralogue variants have been mapped to residue 2050 for RYR1.



RYR1DCPLPEEIRQDLLDFHQDLLAHCGIQLDGE>E<EEP--EEETTLGSRLMSLLEKVRLVKKKEE2078
RYR2ECPCPEEIRDQLLDFHEDLMTHCGIELDED>G<-SLDGNSDLTIRGRLLSLVEKVTYLKKKQA2044
RYR3NCPCPEEIREELYDFHEDLLLHCGVPLEEE>E<-EE--EEDTSWTGKLCALVYKIKGPPKPEK1942
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2050Gc.6149A>G Putative Benignrs201098779SIFT:
Polyphen: probably damaging