Paralogue Annotation for RYR1 residue 4500

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4500
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4500

No paralogue variants have been mapped to residue 4500 for RYR1.



RYR1SP-ILKRKLGVDGVEEELPPEPEPEPEPEL>E<PEKADAENGEKEEVPEPTPEPPKKQ-----4525
RYR2-V-QEKFQEQ--KA---KEEEKEEKEETKS>E<PEKAEGEDGEKEEKAKEDKGKQKLR-----4463
RYR3STVQKKRKA---QA---AEMKAANEAEGKV>E<SEKADMEDGEKEDKDKEEEQAEYLWTEVTK4371
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4500Kc.13498G>A Putative BenignSIFT:
Polyphen: