Paralogue Annotation for RYR2 residue 2019

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2019
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2019

No paralogue variants have been mapped to residue 2019 for RYR2.



RYR2EEIRDQLLDFHEDLMTHCGIELDEDG-SLD>G<NSDLTIRGRLLSLVEKVTYLKKKQA--EKP2047
RYR1EEIRQDLLDFHQDLLAHCGIQLDGEEEEP->-<EEETTLGSRLMSLLEKVRLVKKKEEKPEEE2083
RYR3EEIREELYDFHEDLLLHCGVPLEEEE-EE->-<EEDTSWTGKLCALVYKIKGPPKPEK--EQP1945
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2019Ec.6056G>A Putative BenignSIFT:
Polyphen: