Paralogue Annotation for RYR2 residue 4879

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4879
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4879

No paralogue variants have been mapped to residue 4879 for RYR2.



RYR2TFFFFVIVILLAIIQGLIIDAFGELRDQQE>Q<VKEDMETKCFICGIGNDYFDTVPHGFETHT4909
RYR1TFFFFVIVILLAIIQGLIIDAFGELRDQQE>Q<VKEDMETKCFICGIGSDYFDTTPHGFETHT4980
RYR3TFFFFVIVILLAIIQGLIIDAFGELRDQQE>Q<VREDMETKCFICGIGNDYFDTTPHGFETHT4812
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Gln4879Lysc.14635C>A UnknownSIFT:
Polyphen: