Results for the protein: NP

Results for the Protein: NP_077742

65507817

7490

WT1

NCBI

Wilms tumor protein isoform B [Homo sapiens]

Known Diseases associated with this Protein:
  DENYS-DRASH SYNDROME
  FRASIER SYNDROME
  MEACHAM SYNDROME
  MEACHAM SYNDROME, INCLUDED;;
  MESOTHELIOMA, SOMATIC
  NEPHROTIC SYNDROME TYPE 4, INCLUDED
  NEPHROTIC SYNDROME, TYPE 4
  NEPHROTIC SYNDROME, TYPE 4, INCLUDED
  WILMS TUMOR 1
  WILMS TUMOR 1, INCLUDED

16

1

16

1

0

Tips:

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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: WT1 - pfam02165 zf-C2H2 - pfam00096 ZnF_C2H2 - smart00355	RefSeq Protein: NP_077742 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C2H2	pfam00096	0.00092	391	415
zf-C2H2	pfam00096	3.6e-07	421	445
zf-C2H2	pfam00096	2.2e-05	451	473
zf-C2H2	pfam00096	5.5e-05	479	503
ZnF_C2H2	smart00355	6.5e-06	421	445
ZnF_C2H2	smart00355	0.00069	451	473
ZnF_C2H2	smart00355	0.00065	479	503

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9332973	Polymorphism	p.ALA199THR	N/A
OMIM	607102.0026	Disease	p.ARG366CYS	MEACHAM SYNDROME
OMIM	607102.0004	Disease	p.ARG366HIS	DENYS-DRASH SYNDROME
OMIM	607102.0007	Disease	p.ARG394PRO	DENYS-DRASH SYNDROME
OMIM	607102.0014	Disease	p.ARG362TER	DENYS-DRASH SYNDROME\|\|WILMS TUMOR 1, INCLUDED
OMIM	607102.0010 607102.0024	Disease	p.ARG390TER	FRASIER SYNDROME
OMIM	607102.0003	Disease	p.ARG394TRP	DENYS-DRASH SYNDROME\|\|MEACHAM SYNDROME, INCLUDED;;\|\|NEPHROTIC SYNDROME TYPE 4, INCLUDED
OMIM	607102.0006	Disease	p.ASP396ASN	DENYS-DRASH SYNDROME\|\|NEPHROTIC SYNDROME, TYPE 4, INCLUDED
OMIM	607102.0005	Disease	p.ASP396GLY	DENYS-DRASH SYNDROME
OMIM	607102.0013	Disease	p.CYS360GLY	DENYS-DRASH SYNDROME
OMIM	607102.0008	Disease	p.CYS330TYR	DENYS-DRASH SYNDROME
OMIM	607102.0015	Disease	p.HIS373GLN	DENYS-DRASH SYNDROME
OMIM	607102.0012	Disease	p.HIS377TYR	DENYS-DRASH SYNDROME\|\|NEPHROTIC SYNDROME, TYPE 4, INCLUDED
OMIM	607102.0022	Disease	p.PHE383LEU	NEPHROTIC SYNDROME, TYPE 4
OMIM	607102.0025	Disease	p.PHE392LEU	FRASIER SYNDROME
OMIM	607102.0016	Disease	p.SER273GLY	MESOTHELIOMA, SOMATIC
OMIM	607102.0027	Disease	p.TYR109TER	WILMS TUMOR 1

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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