Paralogue Annotation for RYR1 residue 2049

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2049
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2049

No paralogue variants have been mapped to residue 2049 for RYR1.



RYR1EDCPLPEEIRQDLLDFHQDLLAHCGIQLDG>E<EEEP--EEETTLGSRLMSLLEKVRLVKKKE2077
RYR2SECPCPEEIRDQLLDFHEDLMTHCGIELDE>D<G-SLDGNSDLTIRGRLLSLVEKVTYLKKKQ2043
RYR3-NCPCPEEIREELYDFHEDLLLHCGVPLEE>E<E-EE--EEDTSWTGKLCALVYKIKGPPKPE1941
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2049Gc.6146A>G Putative BenignSIFT:
Polyphen: benign
p.E2049Qc.6145G>C Putative BenignSIFT:
Polyphen: