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.