A54P |
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant |
Homo sapiens |
A74P |
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant |
Homo sapiens |
C169Y |
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved |
Homo sapiens |
D135N |
naturally occuring mutation from enzyme deficiency patients, inactive mutant |
Homo sapiens |
G68C |
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved |
Homo sapiens |
H147Y |
naturally occuring mutation from enzyme deficiency patients, almost inactive mutant |
Homo sapiens |
H51P |
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved |
Homo sapiens |
L166P |
naturally occuring mutation from enzyme deficiency patients, inactive mutant |
Homo sapiens |
L197P |
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant |
Homo sapiens |
N92D |
naturally occuring mutation from enzyme deficiency patients, inactive mutant |
Homo sapiens |
P8T |
naturally occuring mutation from enzyme deficiency patients, the mutant shows similar activity as the wild-type enzyme |
Homo sapiens |
R208P |
naturally occuring mutation from enzyme deficiency patients, almost inactive mutant |
Homo sapiens |
T136M |
naturally occuring mutation from enzyme deficiency patients, inactive mutant |
Homo sapiens |
W45R |
naturally occuring mutation from enzyme deficiency patients, inactive mutant |
Homo sapiens |
Y27H |
naturally occuring mutation from enzyme deficiency patients, the mutant shows similar activity as the wild-type enzyme |
Homo sapiens |