Paralogue Annotation for RYR1 residue 2843

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2843
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2843

No paralogue variants have been mapped to residue 2843 for RYR1.



RYR1AMIAWEWTIEKAREGEEEK--TEKKKTRKI>S<QSAQTYDPREGYNPQPPDLSAVTLSRELQA2873
RYR2TMLAWGWRIERTREGDSMALYNRTRRISQT>S<QV--SVDAAHGYSPRAIDMSNVTLSRDLHA2839
RYR3TMLAVGWTVERTKEGEALVQQRENEKLRSV>S<QA--NQ--GNSYSPAPLDLSNVVLSRELQG2734
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S2843Pc.8527T>C 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
Other Myopathy Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain. Structure. 2012 20(7):1201-11. doi: 10.1016/j.str.2012.04.015. 22705209