Results for the protein: NP

Results for the Protein: NP_000369

65507714

7490

WT1

NCBI

Wilms tumor protein isoform A [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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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_000369 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C2H2	pfam00096	0.00092	374	398
zf-C2H2	pfam00096	3.6e-07	404	428
zf-C2H2	pfam00096	2.2e-05	434	456
zf-C2H2	pfam00096	5.5e-05	462	486
ZnF_C2H2	smart00355	6.5e-06	404	428
ZnF_C2H2	smart00355	0.00069	434	456
ZnF_C2H2	smart00355	0.00065	462	486

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.ARG349CYS	MEACHAM SYNDROME
OMIM	607102.0004	Disease	p.ARG349HIS	DENYS-DRASH SYNDROME
OMIM	607102.0007	Disease	p.ARG377PRO	DENYS-DRASH SYNDROME
OMIM	607102.0014	Disease	p.ARG345TER	DENYS-DRASH SYNDROME\|\|WILMS TUMOR 1, INCLUDED
OMIM	607102.0010 607102.0024	Disease	p.ARG373TER	FRASIER SYNDROME
OMIM	607102.0003	Disease	p.ARG377TRP	DENYS-DRASH SYNDROME\|\|MEACHAM SYNDROME, INCLUDED;;\|\|NEPHROTIC SYNDROME TYPE 4, INCLUDED
OMIM	607102.0006	Disease	p.ASP379ASN	DENYS-DRASH SYNDROME\|\|NEPHROTIC SYNDROME, TYPE 4, INCLUDED
OMIM	607102.0005	Disease	p.ASP379GLY	DENYS-DRASH SYNDROME
OMIM	607102.0013	Disease	p.CYS343GLY	DENYS-DRASH SYNDROME
OMIM	607102.0008	Disease	p.CYS1TYR	DENYS-DRASH SYNDROME
OMIM	607102.0015	Disease	p.HIS356GLN	DENYS-DRASH SYNDROME
OMIM	607102.0012	Disease	p.HIS360TYR	DENYS-DRASH SYNDROME\|\|NEPHROTIC SYNDROME, TYPE 4, INCLUDED
OMIM	607102.0022	Disease	p.PHE366LEU	NEPHROTIC SYNDROME, TYPE 4
OMIM	607102.0025	Disease	p.PHE375LEU	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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