No paralogue variants have been mapped to residue 2843 for RYR1.
RYR1 | AMIAWEWTIEKAREGEEEK--TEKKKTRKI>S<QSAQTYDPREGYNPQPPDLSAVTLSRELQA | 2873 |
RYR2 | TMLAWGWRIERTREGDSMALYNRTRRISQT>S<QV--SVDAAHGYSPRAIDMSNVTLSRDLHA | 2839 |
RYR3 | TMLAVGWTVERTKEGEALVQQRENEKLRSV>S<QA--NQ--GNSYSPAPLDLSNVVLSRELQG | 2734 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2843P | c.8527T>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other 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 |