Paralogue Annotation for RYR1 residue 1267

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1267
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1267

No paralogue variants have been mapped to residue 1267 for RYR1.



RYR1FSKGLPQFEPVPLEHPHYEVSRVDGTVDTP>P<CLRLTHRTWGSQNSLVEMLFLRLSLPVQFH1297
RYR2LSKRLPQFLQVPSNHEHIEVTRIDGTIDSS>P<CLKVTQKSFGSQNSNTDIMFYRLSMPIECA1311
RYR3FSKRLPTFVNVPKDHPHIEVMRIDGTMDSP>P<CLKVTHKTFGTQNSNADMIYCRLSMPVECH1297
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1267Rc.3800C>G Other MyopathySIFT:
Polyphen: probably damaging
ReportsOther Myopathy Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
Other Myopathy Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551
p.P1267Hc.3800C>A Putative BenignSIFT:
Polyphen: