Results for the protein: NP

Results for the Protein: NP_001108452

169234661

8626

TP63

NCBI

tumor protein 63 isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  3
  ADULT SYNDROME
  ADULT SYNDROME, INCLUDED
  ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
  ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
  OROFACIAL CLEFT 8
  RAPP-HODGKIN SYNDROME
  RAPP-HODGKIN SYNDROME, INCLUDED
  SPLIT-HAND/FOOT MALFORMATION 4

19

0

19

0

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: P53 - pfam00870 P53 - cd08367 P53_tetramer - pfam07710 SAM - smart00454 SAM_2 - pfam07647 - cd00166	RefSeq Protein: NP_001108452 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
	cd00166	9.1e-10	449	511
P53	pfam00870	2.2e-149	69	265
P53_tetramer	pfam07710	3.4e-20	298	338
SAM_2	pfam07647	5.4e-13	447	511
SAM	smart00454	2.9e-09	447	513

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	603273.0006	Disease	p.ARG186CYS	SPLIT-HAND/FOOT MALFORMATION 4
OMIM	603273.0002	Disease	p.ARG110GLN	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0024	Disease	p.ARG133GLN	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3\|\|ADULT SYNDROME, INCLUDED
OMIM	603273.0014	Disease	p.ARG204GLN	ADULT SYNDROME
OMIM	603273.0008	Disease	p.ARG210GLN	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0022	Disease	p.ARG204GLY	ADULT SYNDROME
OMIM	603273.0021	Disease	p.ARG219GLY	OROFACIAL CLEFT 8
OMIM	603273.0007	Disease	p.ARG185HIS	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3\|\|RAPP-HODGKIN SYNDROME, INCLUDED
OMIM	603273.0028	Disease	p.ARG133PRO	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0019	Disease	p.ARG451PRO	RAPP-HODGKIN SYNDROME
OMIM	603273.0001	Disease	p.ARG110TRP	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0015	Disease	p.ASP218GLY	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0003	Disease	p.CYS212ARG	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0010	Disease	p.CYS428GLY	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM	603273.0018	Disease	p.ILE416THR	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE\|\|RAPP-HODGKIN SYNDROME, INCLUDED
OMIM	603273.0009	Disease	p.LEU420PHE	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM	603273.0005	Disease	p.LYS100GLU	SPLIT-HAND/FOOT MALFORMATION 4
OMIM	603273.0026	Disease	p.PRO33LEU	ADULT SYNDROME
OMIM	603273.0020	Disease	p.VAL20MET	ADULT SYNDROME

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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