Paralogue Annotation for RYR1 residue 3498

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3498
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3498

No paralogue variants have been mapped to residue 3498 for RYR1.



RYR1SFLTADNKSKMAKAGDIQSGGSDQERTKKK>R<RGDRYSVQTSLIVATLKKMLPIGLNMCAPT3528
RYR2SFLITDTKSKMSKAA-----VSDQERKKMK>R<KGDRYSMQTSLIVAALKRLLPIGLNICAPG3484
RYR3AFLTGDSKSKMSKAMQVKSGGQDQERKKTK>R<RGDLYSIQTSLIVAALKKMLPIGLNMCTPG3385
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3498Gc.10492C>G Putative Benignrs201358408SIFT:
Polyphen: benign
p.R3498Lc.10493G>T Putative BenignSIFT: deleterious
Polyphen: benign
p.R3498Hc.10493G>A Putative BenignSIFT:
Polyphen:
p.R3498Cc.10492C>T UnknownSIFT:
Polyphen: benign