No paralogue variants have been mapped to residue 3021 for RYR1.
RYR1 | HEQEIKFFAKILLPLINQYFTNHCLYFLST>P<AKVLGSGGHASNKEKEMITSLFCKLAALVR | 3051 |
RYR2 | YEQEIKFFAKVVLPLIDQYFKNHRLYFLSA>A<SRPLCSGGHASNKEKEMVTSLFCKLGVLVR | 3016 |
RYR3 | RDQEIKFFAKVLLPLVDQYFTSHCLYFLSS>P<LKPLSSSGYASHKEKEMVAGLFCKLAALVR | 2912 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P3021L | c.9062C>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 |