Paralogue Annotation for RYR1 residue 4501

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4501
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4501

No paralogue variants have been mapped to residue 4501 for RYR1.



RYR1P-ILKRKLGVDGVEEELPPEPEPEPEPELE>P<EKADAENGEKEEVPEPTPEPPKKQ------4525
RYR2V-QEKFQEQ--KA---KEEEKEEKEETKSE>P<EKAEGEDGEKEEKAKEDKGKQKLR------4463
RYR3TVQKKRKA---QA---AEMKAANEAEGKVE>S<EKADMEDGEKEDKDKEEEQAEYLWTEVTKK4372
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P4501Lc.13502C>T ConflictSIFT:
Polyphen:
ReportsOther Myopathy Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329
Other Myopathy A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092
Other Myopathy Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Mol Genet Metab. 2011 104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. 21795085
Other Myopathy An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991