Paralogue Annotation for RYR1 residue 3938

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3938
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3938

No paralogue variants have been mapped to residue 3938 for RYR1.



RYR1NTTTINIIICTVDYLLRLQESISDFYWYYS>G<KDVIEEQGKRNFSKAMSVAKQVFNSLTEYI3968
RYR2NNTTVNIIISTVDYLLRVQESISDFYWYYS>G<KDVIDEQGQRNFSKAIQVAKQVFNTLTEYI3924
RYR3NTTTVNVIISTVDYLLRLQESISDFYWYYS>G<KDIIDESGQHNFSKALAVTKQIFNSLTEYI3820
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G3938Dc.11813G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645