Mutation | Disturbance of local structure | Affecting dimer interface | Affecting trimer interface | Disturbance of ATP binding site | Disturbance of allosteric site I | Disturbance of allosteric site II | Neuropathy |
---|---|---|---|---|---|---|---|
PRS-I superactivity | |||||||
p.D52H | + | - | + | - | + | - | - |
p.N114S | - | + | + | - | +/- | +/- | + |
p.L129I | + | - | - | - | - | + | + |
p.D183H | - | + | - | - | +/- | +/- | + |
p.A190V | + | + | - | - | +/- | +/- | + |
p.H193L** | - | + | - | - | +/- | +/- | - |
p.H193Q | - | + | - | - | +/- | +/- | + |
p.V142L | + | + | - | - | - | + | + |
Arts syndrome | |||||||
p.Q133P | + | + | - | + | +/- | + | + |
p.L152P | + | + | - | + | +/- | + | + |
p.Q277P | + | - | +/- | + | - | - | + |
CMTX5 | |||||||
p.E43D | - | - | + | + | + | - | + |
p.M115T | - | - | + | + | + | - | + |
p.A121G | + | - | +/- | +/- | +/- | - | + |
DFN2 | |||||||
p.D65N | - | - | + | - | - | - | ? |
p.A87T | + | - | - | - | - | - | ? |
p.I290T | + | - | - | - | - | - | ? |
p.G306R | - | - | + | - | - | - | ? |