Paralogue Annotation for RYR1 residue 2272

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2272
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2272

No paralogue variants have been mapped to residue 2272 for RYR1.



RYR1QNQRSMFDHLSYLLENSGIG--L-GMQGST>P<LDVAAASVIDNNELALALQEQDLEKVVSYL2302
RYR2QNQKAMFDHLSYLLENSSVGLASPAMRGST>P<LDVAAASVMDNNELALALREPDLEKVVRYL2269
RYR3QNQKAMFEHLSYLLENSSVGLASPSMRGST>P<LDVAASSVMDNNELALSLEEPDLEKVVTYL2166
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2272Sc.6814C>T Putative BenignSIFT:
Polyphen: