No paralogue variants have been mapped to residue 3918 for RYR1.
RYR1 | QLLCEGHNNDFQNYLRTQTGNTTTINIIIC>T<VDYLLRLQESISDFYWYYSGKDVIEEQGKR | 3948 |
RYR2 | QLLCEGHNSDFQNYLRTQTGNNTTVNIIIS>T<VDYLLRVQESISDFYWYYSGKDVIDEQGQR | 3904 |
RYR3 | QLLCEGHNSDFQNFLRTQMGNTTTVNVIIS>T<VDYLLRLQESISDFYWYYSGKDIIDESGQH | 3800 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3918P | c.11752A>C | 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 |