Results for the protein: NP

Results for the Protein: NP_073143

42764687

1848

DUSP6

NCBI

dual specificity protein phosphatase 6 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 19 WITHOUT ANOSMIA

4

2

4

2

0

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: CDC14 - COG2453 DSP_MapKP - cd01446 Rhodanese - pfam00581 RHOD - cd00158 DSPc - cd00127 RHOD - smart00450 DSPc - smart00195 DSPc - pfam00782	RefSeq Protein: NP_073143 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RHOD	cd00158	0.00016	22	140
DSPc	cd00127	9.3e-62	26	198
CDC14	COG2453	0.00051	1	219
Rhodanese	pfam00581	3.9e-13	19	133
DSPc	pfam00782	1.2e-23	76	200
RHOD	smart00450	2.2e-06	30	152
DSPc	smart00195	1.1e-18	36	200

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61734372	Polymorphism	p.THR87ILE	N/A
dbSNP	rs2279574	Polymorphism	p.VAL114LEU	N/A
OMIM	602748.0001	Disease	p.ASN1SER	HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA
OMIM	602748.0004	Disease	p.PHE77ILE	HYPOGONADOTROPIC HYPOGONADISM 19 WITHOUT ANOSMIA
OMIM	602748.0002	Disease	p.SER1PHE	HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	602748.0003	Disease	p.THR200MET	HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, 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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