Paralogue Annotation for RYR1 residue 4214

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4214
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4214

No paralogue variants have been mapped to residue 4214 for RYR1.



RYR1GASRRIERIYFEISETNRAQWEMPQVKESK>R<QFIFDVVNEGGEAEKMELFVSFCEDTIFEM4244
RYR2GSAKRIERVYFEISESSRTQWEKPQVKESK>R<QFIFDVVNEGGEKEKMELFVNFCEDTIFEM4200
RYR3GGAKKIERVYFEISESSRTQWEKPQVKESK>R<QFIFDVVNEGGEQEKMELFVNFCEDTIFEM4096
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R4214Hc.12641G>A Putative BenignSIFT: deleterious
Polyphen: benign