Paralogue Annotation for RYR1 residue 4939

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4939
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4939

No paralogue variants have been mapped to residue 4939 for RYR1.



RYR1EYELYRVVFDITFFFFVIVILLAIIQGLII>D<AFGELRDQQEQVKEDMETKCFICGIGSDYF4969
RYR2EYEIYRIIFDITFFFFVIVILLAIIQGLII>D<AFGELRDQQEQVKEDMETKCFICGIGNDYF4898
RYR3PYEMYRIVFDITFFFFVIVILLAIIQGLII>D<AFGELRDQQEQVREDMETKCFICGIGNDYF4801
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D4939Ec.14817C>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404
Other Myopathy Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838
p.D4939Nc.14815G>A Putative BenignSIFT:
Polyphen: