No paralogue variants have been mapped to residue 4806 for RYR1.
RYR1 | YQIWKFGVIFTDNSFLYLGWYMVMSLLGHY>N<NFFFAAHLLDIAMGVKTLRTILSSVTHNGK | 4836 |
RYR2 | YQMWKLGVVFTDNSFLYLAWYMTMSVLGHY>N<NFFFAAHLLDIAMGFKTLRTILSSVTHNGK | 4765 |
RYR3 | YHIWKLGVVFTDNSFLYLAWYTTMSVLGHY>N<NFFFAAHLLDIAMGFKTLRTILSSVTHNGK | 4668 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4806D | c.14416A>G | 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 |