Paralogue Annotation for RYR1 residue 4494

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4494
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4494

No paralogue variants have been mapped to residue 4494 for RYR1.



RYR1PPTPEGSP-ILKRKLGVDGVEEELPPEPEP>E<PEPELEPEKADAENGEKEEVPEPTPEPPKK4524
RYR2PVPMPE-V-QEKFQEQ--KA---KEEEKEE>K<EETKSEPEKAEGEDGEKEEKAKEDKGKQKL4462
RYR3EPPTLESTVQKKRKA---QA---AEMKAAN>E<AEGKVESEKADMEDGEKEDKDKEEEQAEYL4365
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4494Kc.13480G>A Putative BenignSIFT:
Polyphen: