Paralogue Annotation for RYR1 residue 71

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 71
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 71

No paralogue variants have been mapped to residue 71 for RYR1.



RYR1FGNRLCFLEPTSNAQNVPPDLAICCFVLEQ>S<LSVRALQEMLANTVEAG--V---E------90
RYR2FGNRLCFLESTSNSKNVPPDLSICTFVLEQ>S<LSVRALQEMLANTVEKSEGQVDVEKWKFMM102
RYR3LGNRLCFLEPTSEAKYIPPDLCVCNFVLEQ>S<LSVRALQEMLANTGENG-GE---G------93
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S71Yc.212C>A Other Myopathyrs118192113SIFT:
Polyphen:
ReportsOther Myopathy Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146