Paralogue Annotation for RYR1 residue 4221

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4221
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4221

No paralogue variants have been mapped to residue 4221 for RYR1.



RYR1RIYFEISETNRAQWEMPQVKESKRQFIFDV>V<NEGGEAEKMELFVSFCEDTIFEMQIAAQIS4251
RYR2RVYFEISESSRTQWEKPQVKESKRQFIFDV>V<NEGGEKEKMELFVNFCEDTIFEMQLAAQIS4207
RYR3RVYFEISESSRTQWEKPQVKESKRQFIFDV>V<NEGGEQEKMELFVNFCEDTIFEMQLASQIS4103
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4221Lc.12661G>C Putative BenignSIFT: tolerated
Polyphen: benign
p.V4221Mc.12661G>A Putative BenignSIFT:
Polyphen: