Paralogue Annotation for RYR1 residue 4935

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4935
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4935

No paralogue variants have been mapped to residue 4935 for RYR1.



RYR1PAGDEYELYRVVFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVKEDMETKCFICGIG4965
RYR2PAGDEYEIYRIIFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVKEDMETKCFICGIG4894
RYR3PAGDPYEMYRIVFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVREDMETKCFICGIG4797
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4935Sc.14803G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene. Braz J Med Biol Res. 2009 42(12):1218-24. 19918671
Other Myopathy Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645