Results for the protein: Q9NRD8

Results for the Protein: Q9NRD8

296434485

50506

DUOX2

NCBI, UniProt

DUOX2_HUMAN RecName: Full=Dual oxidase 2; AltName: Full=Large NOX 2; AltName: Full=Long NOX 2; AltName: Full=NADH/NADPH thyroid oxidase p138-tox; AltName: Full=NADPH oxidase/peroxidase DUOX2; AltName: Full=NADPH thyroid oxidase 2; AltName: Full=Thyroid oxidase 2; AltName: Full=p138 thyroid oxidase; Flags: Precursor

Known Diseases associated with this Protein:
THYROID DYSHORMONOGENESIS 6
THYROID DYSHORMONOGENESIS 6 (TDH6)

7

7

4

7

3

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Default View: EFh - smart00054 FAD_binding_8 - pfam08022 NAD_binding_6 - pfam08030	Swiss-Prot Protein: Q9NRD8 Identical to: NP_054799 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EFh	smart00054	0.00056	859	887
FAD_binding_8	pfam08022	3.3e-19	1269	1371
NAD_binding_6	pfam08030	1.2e-24	1377	1531

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs113400262	Polymorphism	p.ARG701GLN	N/A
dbSNP	rs61747115	Polymorphism	p.ARG808LYS	N/A
Swiss-Prot	VAR_025325	Disease	p.ARG376TRP	Thyroid dyshormonogenesis 6 (TDH6)
Swiss-Prot	VAR_025323	Disease	p.GLN36HIS	Thyroid dyshormonogenesis 6 (TDH6)
dbSNP	rs79393107	Polymorphism	p.GLU1017GLY	N/A
Swiss-Prot	VAR_064619	Disease	p.GLY1518SER	Thyroid dyshormonogenesis 6 (TDH6)
dbSNP	rs57659670	Polymorphism	p.HIS678ARG	N/A
dbSNP	rs61730030	Polymorphism	p.PRO982ALA	N/A
dbSNP	rs2001616	Polymorphism	p.PRO138LEU	N/A
dbSNP	rs269868	Polymorphism	p.SER1067LEU	N/A
OMIM	606759.0001	Disease	p.ARG434TER	THYROID DYSHORMONOGENESIS 6
OMIM	606759.0003	Disease	p.ARG842TER	THYROID DYSHORMONOGENESIS 6
OMIM	606759.0004	Disease	p.ARG376TRP	THYROID DYSHORMONOGENESIS 6
OMIM	606759.0002	Disease	p.GLN686TER	THYROID DYSHORMONOGENESIS 6

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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