A328V |
moderate loss-of-function effects in the catalytic and oligomerization domains |
Homo sapiens |
D479E |
moderate loss-of-function effects in the catalytic and oligomerization domains |
Homo sapiens |
L36P |
properties affecting the regulatory domain are indistinguishable from the wild-type, severe alterations in secondary structure |
Homo sapiens |
L36V |
properties affecting the regulatory domain are indistinguishable from the wild-type |
Homo sapiens |
additional information |
specific activity is decreased for all mutations in the catalytic and oligomerization domains of TPH2. All TPH2 mutants appear to be more soluble in HEK-293 cells than in Escherichia coli, all variants are expressed as intact fusion proteins at high levels in Escherichia coli and are cleaved by tobacco etch virus protease |
Homo sapiens |
P206S |
moderate loss-of-function effects in the catalytic and oligomerization domains, severe alterations in secondary structure, reduced stability |
Homo sapiens |
R303W |
has severely reduced solubility and is completely inactive, alteration in net charge |
Homo sapiens |
R441H |
moderate loss-of-function effects in the catalytic and oligomerization domains, alteration in net charge |
Homo sapiens |
R55C |
properties affecting the regulatory domain are indistinguishable from the wild-type, alteration in net charge |
Homo sapiens |
S41Y |
properties affecting the regulatory domain are indistinguishable from the wild-type |
Homo sapiens |