Paralogue Annotation for RYR1 residue 2271

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2271
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2271

No paralogue variants have been mapped to residue 2271 for RYR1.



RYR1RQNQRSMFDHLSYLLENSGIG--L-GMQGS>T<PLDVAAASVIDNNELALALQEQDLEKVVSY2301
RYR2RQNQKAMFDHLSYLLENSSVGLASPAMRGS>T<PLDVAAASVMDNNELALALREPDLEKVVRY2268
RYR3RQNQKAMFEHLSYLLENSSVGLASPSMRGS>T<PLDVAASSVMDNNELALSLEEPDLEKVVTY2165
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T2271Mc.6812C>T Putative BenignSIFT:
Polyphen: