Paralogue Annotation for RYR1 residue 33

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 33
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 33

No paralogue variants have been mapped to residue 33 for RYR1.



RYR1AE-GEDEVQFLRTDDEVVLQCSATVLKEQL>K<LCLAAEGFGNRLCFLEPTSNAQNVPPDLAI63
RYR2GE-GEDEIQFLRTDDEVVLQCTATIHKEQQ>K<LCLAAEGFGNRLCFLESTSNSKNVPPDLSI64
RYR3GEGGEDEIQFLRTEDEVVLQCIATIHKEQR>K<FCLAAEGLGNRLCFLEPTSEAKYIPPDLCV65
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K33Ec.97A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology. 2008 71(10):776-7. 18765655