Paralogue Annotation for RYR1 residue 2698

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2698
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2698

No paralogue variants have been mapped to residue 2698 for RYR1.



RYR1SEEELHLTRKLFWGIFDSLAHKKYDPELYR>M<AMPCLCAIAGALPPDYVDASYSSKAEKKAT2728
RYR2SEEELHLSRKLFWGIFDALSQKKYEQELFK>L<ALPCLSAVAGALPPDYMESNYVSMMEKQSS2694
RYR3VEEELHLTEKLFWGIFDSLSHKKYDPDLFR>M<ALPCLSAIAGALPPDYLDTRITATLEKQIS2591
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M2698Rc.8093T>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. Anesth Analg. 2009 109(4):1273-7. 19762757
p.M2698Tc.8093T>C BenignSIFT:
Polyphen: benign
p.M2698Vc.8092A>G Putative BenignSIFT:
Polyphen: