Results for the protein: Q8IWU9

Results for the Protein: Q8IWU9

30580625

121278

TPH2

NCBI, UniProt

TPH2_HUMAN RecName: Full=Tryptophan 5-hydroxylase 2; AltName: Full=Neuronal tryptophan hydroxylase; AltName: Full=Tryptophan 5-monooxygenase 2

Known Diseases associated with this Protein:
  ATTENTION DEFICIT-HYPERACTIVITY DISORDER 7 (ADHD7)
  ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
  BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO
  UNIPOLAR DEPRESSION, SUSCEPTIBILITY TO

4

10

3

0

11

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: ACT_PAH - cd04931 ACT_CM-PDT - cd04905 ACT - pfam01842 ACT_TPH - cd04929 ACT_AAAH - cd04904 ACT_AAAH-PDT-like - cd04880 Biopterin_H - pfam00351 eu_PheOH - cd03347 eu_TrpOH - cd03346 eu_TyrOH - cd03345 COG3186 - COG3186 pro_PheOH - cd03348 arom_aa_hydroxylase - cd00361	Swiss-Prot Protein: Q8IWU9 Identical to: NP_775489 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ACT_CM-PDT	cd04905	2.8e-06	63	135
ACT_AAAH	cd04904	7.3e-37	64	137
ACT_TPH	cd04929	3.1e-51	64	137
ACT_AAAH-PDT-like	cd04880	7.3e-19	65	137
eu_TrpOH	cd03346	8.2e-208	152	438
eu_PheOH	cd03347	2e-215	152	457
eu_TyrOH	cd03345	1.1e-195	153	450
pro_PheOH	cd03348	3.1e-45	202	431
arom_aa_hydroxylase	cd00361	1.9e-151	208	431
ACT	pfam01842	0.00011	64	131
Biopterin_H	pfam00351	1.3e-206	152	460
COG3186	COG3186	6.5e-24	164	459

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058943	Polymorphism	p.ALA328VAL	N/A
Swiss-Prot	VAR_058941	Polymorphism	p.ARG55CYS	N/A
Swiss-Prot	VAR_065019	Polymorphism	p.ARG433GLY	N/A
Swiss-Prot	VAR_026749	Polymorphism	p.ARG441HIS	N/A
Swiss-Prot	VAR_058942	Disease	p.ARG303TRP	Attention deficit-hyperactivity disorder 7 (ADHD7)
Swiss-Prot	VAR_058944	Polymorphism	p.ASP479GLU	N/A
Swiss-Prot	VAR_065020	Polymorphism	p.GLN468ARG	N/A
Swiss-Prot	VAR_058938	Polymorphism	p.LEU36PRO	N/A
Swiss-Prot	VAR_058939	Polymorphism	p.LEU36VAL	N/A
Swiss-Prot	VAR_046136	Polymorphism	p.PRO206SER	N/A
Swiss-Prot	VAR_058940	Polymorphism	p.SER41TYR	N/A
OMIM	607478.0001	Disease	p.ARG441HIS	UNIPOLAR DEPRESSION, SUSCEPTIBILITY TO
OMIM	607478.0002	Disease	p.ARG303TRP	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
OMIM	607478.0003	Disease	p.PRO206SER	BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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