Paralogue Annotation for RYR1 residue 3598

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3598
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3598

No paralogue variants have been mapped to residue 3598 for RYR1.



RYR1GREEDADDPEKIVRRV-------------Q>E<VSAVLYYLDQTEHPYKSKKAVWHKLLSKQR3628
RYR2NRTDDTSDPEKTVERVLDIANVLFHLEQKS>K<RVGRRHYCL-VEHPQRSKKAVWHKLLSKQR3595
RYR3K-SEEPFNPEKTVERV-------------Q>R<ISAAVFHLEQVEQPLRSKKAVWHKLLSKQR3483
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3598Vc.10793A>T Putative BenignSIFT:
Polyphen: benign