Paralogue Annotation for RYR2 residue 4890

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4890
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4890

No paralogue variants have been mapped to residue 4890 for RYR2.



RYR2AIIQGLIIDAFGELRDQQEQVKEDMETKCF>I<CGIGNDYFDTVPHGFETHTLQEHNLANYLF4920
RYR1AIIQGLIIDAFGELRDQQEQVKEDMETKCF>I<CGIGSDYFDTTPHGFETHTLEEHNLANYMF4991
RYR3AIIQGLIIDAFGELRDQQEQVREDMETKCF>I<CGIGNDYFDTTPHGFETHTLQEHNLANYLF4823
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I4890Vc.14668A>G Putative BenignSIFT: deleterious
Polyphen: benign