Literature summary for 1.14.16.4 extracted from

McKinney, J.A.; Turel, B.; Winge, I.; Knappskog, P.M.; Haavik, J.
Functional properties of missense variants of human tryptophan hydroxylase 2 (2009), Hum. Mutat., 30, 787-794.

Search for more literature for 1.14.16.4

Cloned(Commentary)

Cloned (Comment)	Organism
wild-type and missense mutants from vector pETM41 for 6 x His-MBP-TPH2 expression in Escherichia coli BL21-Codon Plus (DE3)-RIPL cells, and vector pcDNA5/FRT, for expression in a cell free expression system and in HEK-293 cells. Rabbit reticulocyte lysate used to express TPH2 wild-type and missense variants	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P17752	-	-

Purification (Commentary)

Purification (Comment)	Organism
by a rapid batch method	Homo sapiens

Synonyms

Synonyms	Comment	Organism
TPH2	-	Homo sapiens
tryptophan hydroxylase 2	-	Homo sapiens

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Release 2023.1 (January 2023)