Paralogue Annotation for RYR1 residue 40

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 40
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 40

No paralogue variants have been mapped to residue 40 for RYR1.



RYR1VQFLRTDDEVVLQCSATVLKEQLKLCLAAE>G<FGNRLCFLEPTSNAQNVPPDLAICCFVLEQ70
RYR2IQFLRTDDEVVLQCTATIHKEQQKLCLAAE>G<FGNRLCFLESTSNSKNVPPDLSICTFVLEQ71
RYR3IQFLRTEDEVVLQCIATIHKEQRKFCLAAE>G<LGNRLCFLEPTSEAKYIPPDLCVCNFVLEQ72
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G40Vc.119G>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2009 19(5):344-7. 19303294