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. 2013 Feb 7;3:1225. doi: 10.1038/srep01225

Table 1. Detailed list of human angiogenin mutations reported in ALS patients with their corresponding loss-of-functions data from reported experiments and our MD simulations.

Human ANG mutation Experimental findings from literatures MD simulation results Remarks Reference
  Ribonucleolytic activity Nuclear translocation activity Ribonucleolytic activity Nuclear translocation activity    
K17I# Loss8,10,11 No loss8,11 Loss7 No loss7   31,32,33,34,35
S28N# Loss8,11 Loss8,11 Loss7 Loss7   8
P112L# Partial loss8,11 Loss8,11 Partial loss7 Loss7   8
I46V Partial loss10,11 No loss11 Partial loss No loss   31, 32, 35, 36, 37, 38, 39
K17E Partial loss10,11 No loss11 Partial loss No loss   31
R31K Minor loss10,11 No loss10,11 Minor loss No loss   31
V103I Not reported Not reported No loss Loss   40
D22G Not reported Not reported Loss No loss   41
V113I# Minor loss11 Transient activity11 No loss7 Loss7   37
Q12L* Loss10,11 No loss11     *Located near His13 31
C39W* Loss10,11 Not reported     *Located near Lys40 31
K40I* Loss10,11 No loss11     *Mutation of Lys40 31, 5
H114R* Loss11 No loss11 *MD simulations not performed *Mutation of His114 37
F-13S* Not reported Not reported     *Not located in mature ANG 37, 38
F-13L* Not reported Not reported     *Not located in mature ANG 35
M-24I* Not reported Not reported     *Not located in mature ANG 37, 38
P-4S* Not reported Not reported     *Not located in mature ANG 37, 8
R121C Not reported Not reported No loss No loss SOD1-G93D patient with R121C-ANG mutation 23
R121H No loss11 Transient activity11 No loss Loss   36
K54E No loss11 Not reported No loss Loss   35
T80S Not reported Not reported Loss No loss   32, 44
F100I Not reported Not reported No loss Loss   32, 44
N49S Not reported Not reported Minor loss No loss   42
L35P# Not reported Not reported Loss7 Loss7   43
K60E# Not reported Not reported No loss7 No loss7   43

#ANG mutants for which simulation results are presented in reference 7.