Paralogue Annotation for RYR1 residue 1293

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1293
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1293

No paralogue variants have been mapped to residue 1293 for RYR1.



RYR1VDTPPCLRLTHRTWGSQNSLVEMLFLRLSL>P<VQFHQHFRCTAGATPLAPPGLQPPAEDEAR1323
RYR2IDSSPCLKVTQKSFGSQNSNTDIMFYRLSM>P<IECAEVFSKTV-AGGLPGAGLFGPK-NDLE1335
RYR3MDSPPCLKVTHKTFGTQNSNADMIYCRLSM>P<VECHSSFSH---------------------1302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1293Tc.3877C>A Other Myopathyrs146407179SIFT:
Polyphen:
ReportsOther Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935
Other Myopathy Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594